ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.607C>A (p.Leu203Met)

gnomAD frequency: 0.00007  dbSNP: rs548376992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002193953 SCV002488286 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505862 SCV002800509 likely benign Osteopetrosis with renal tubular acidosis 2021-12-28 criteria provided, single submitter clinical testing

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