ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2085C>T (p.Gly695=)

gnomAD frequency: 0.00043  dbSNP: rs150568382
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000949208 SCV000715610 likely benign not provided 2021-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12955714)
Invitae RCV000949208 SCV001095456 benign not provided 2021-11-06 criteria provided, single submitter clinical testing

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