ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.549C>G (p.Leu183=)

gnomAD frequency: 0.00034  dbSNP: rs151021025
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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 RCV000903768 SCV001048250 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487971 SCV002802218 likely benign Osteopetrosis with renal tubular acidosis 2021-08-10 criteria provided, single submitter clinical testing

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