ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu)

gnomAD frequency: 0.00006  dbSNP: rs763483604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665092 SCV001874726 uncertain significance not provided 2021-07-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001665092 SCV002143196 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing

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