ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) (rs373851693)

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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 RCV000825712 SCV000967161 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Glu2168Glu in exon 49 of CACNA1D: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.27% (23/8488 ) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs373851693).
Invitae RCV000885147 SCV001028575 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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