ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=)

gnomAD frequency: 0.00009  dbSNP: rs372233648
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732204 SCV000860127 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000732204 SCV001704536 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000732204 SCV001796632 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing

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