ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.731T>G (p.Val244Gly)

dbSNP: rs2108327394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763982 SCV002000221 uncertain significance not provided 2020-10-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
GenomeConnect, ClinGen RCV001825029 SCV002074981 not provided CACNA1D-related disorder no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-28-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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