ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) (rs36061665)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219893 SCV000268819 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala1113Ala in exon 27 of CACNA1D: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.4% (33/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs36061665).
GeneDx RCV000842946 SCV000984977 likely benign not provided 2018-03-23 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.
Invitae RCV000842946 SCV001025685 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000842946 SCV001143456 benign not provided 2018-09-20 criteria provided, single submitter clinical testing

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