ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) (rs76868547)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000608885 SCV000711491 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr2057Thr in exon 48 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 2.1% (94/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs76868547).
GeneDx RCV000608885 SCV000718123 likely benign not specified 2018-01-15 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 RCV000888092 SCV001031704 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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