ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.534C>T (p.Phe178=)

gnomAD frequency: 0.00011  dbSNP: rs17850824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002161477 SCV002473137 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486978 SCV002798526 likely benign Osteopetrosis with renal tubular acidosis 2021-10-20 criteria provided, single submitter clinical testing

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