ClinVar Miner

Submissions for variant NM_004667.5(HERC2):c.12801T>A (p.Asp4267Glu) (rs373175587)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454954 SCV000539281 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Gene associated with AR mental retardation, skin/hair/eye pigmentation
Ambry Genetics RCV000623625 SCV000740772 benign Inborn genetic diseases 2016-03-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000490894 SCV000282197 pathogenic Mental retardation, autosomal recessive 38 2016-01-10 no assertion criteria provided research

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