ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) (rs150838215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213122 SCV000268826 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg2166Lys in exon 49 of CACNA1D: This variant is not expected to have clinical significance because it has been identified in 0.5% (22/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs150838215).
Invitae RCV000901570 SCV001045947 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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