ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.324C>T (p.Asp108=)

gnomAD frequency: 0.00173  dbSNP: rs147647355
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124112 SCV000167521 benign not specified 2013-09-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000233757 SCV000285610 benign Idiopathic generalized epilepsy 2023-12-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000124112 SCV000341958 benign not specified 2016-06-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000124112 SCV005621074 benign not specified 2024-01-02 criteria provided, single submitter clinical testing

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