ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1476T>C (p.Pro492=)

dbSNP: rs1730893286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002078654 SCV002374066 likely benign not provided 2021-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494154 SCV002800368 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-08-10 criteria provided, single submitter clinical testing

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