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Talk:Rs80359261

From SNPedia

I have been listed as Pathogenic Mutation Positive by my health care provider for this gene. My 23andMe reports that I am -/-. Either 23andMe is incorrect or this page is incorrect, and -/- should be considered high risk.

The "DD" genotype as reported in 23andMe data, and as converted to (-;-) by Promethease, is definitely the benign/common form of this variant, and so this page in SNPedia is correct as far as we can tell. If you wish to contact us directly to privately discuss the specific mutation your clinical lab apparently reported, email us (info@snpedia.com) and we'll review it, since either there's naming confusion or, as you said, the 23andMe data for you is incorrect and more specifically is a false negative.Greg (talk) 19:47, 27 February 2019 (UTC)