ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.315+18G>A

gnomAD frequency: 0.00019  dbSNP: rs375473654
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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 RCV002155531 SCV002425164 likely benign not provided 2024-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494321 SCV002802033 likely benign Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-09-14 criteria provided, single submitter clinical testing

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