ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2413C>T (p.Arg805Trp)

gnomAD frequency: 0.00001  dbSNP: rs763107032
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214314 SCV002497251 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002214314 SCV003783287 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing

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