ClinVar Miner

Submissions for variant NM_005186.4(CAPN1):c.519G>A (p.Gly173=)

gnomAD frequency: 0.00025  dbSNP: rs201854138
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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 RCV000883132 SCV001026415 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000883132 SCV004698982 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CAPN1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000883132 SCV005215204 likely benign not provided criteria provided, single submitter not provided

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