ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.712+19C>T

gnomAD frequency: 0.00021  dbSNP: rs376973865
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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 RCV002202907 SCV002354251 likely benign not provided 2024-09-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498199 SCV002807194 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-08-20 criteria provided, single submitter clinical testing

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