ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.5058C>T (p.Asp1686=)

gnomAD frequency: 0.00528  dbSNP: rs61757649
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954378 SCV001101007 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954378 SCV001962240 benign not provided 2024-11-01 criteria provided, single submitter clinical testing CAD: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002502958 SCV002799849 likely benign Developmental and epileptic encephalopathy, 50 2021-08-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000954378 SCV005263225 likely benign not provided criteria provided, single submitter not provided

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