ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg)

gnomAD frequency: 0.00433  dbSNP: rs151133441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953414 SCV001099987 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489316 SCV002795107 likely benign Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2021-09-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000953414 SCV005285767 benign not provided criteria provided, single submitter not provided

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