ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.618G>A (p.Val206=)

gnomAD frequency: 0.00017  dbSNP: rs369700367
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889200 SCV001032865 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487949 SCV002801720 likely benign Osteopetrosis with renal tubular acidosis 2021-12-14 criteria provided, single submitter clinical testing

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