ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) (rs150266932)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727345 SCV000707738 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000594879 SCV000711488 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Leu955Leu in exon 22 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 0.23% (55/24024 ) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org/; dbSNP rs150266932). ACMG/AMP criteria applied: BS1, BP7.
Invitae RCV000727345 SCV001041424 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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