ClinVar Miner

Submissions for variant NM_177986.5(DSG4):c.2293A>G (p.Thr765Ala) (rs61734847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000275911 SCV000408158 likely benign Hypotrichosis 6 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000957733 SCV001104549 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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