ClinVar Miner

Submissions for variant NM_000067.3(CA2):c.339A>G (p.Lys113=)

gnomAD frequency: 0.00001  dbSNP: rs370128128
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002025080 SCV002270950 likely benign not provided 2023-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492229 SCV002801513 uncertain significance Osteopetrosis with renal tubular acidosis 2022-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002025080 SCV004010791 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing CA2: BP4, BP7

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