ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.3168-6C>G (rs72556355)

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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 RCV000220678 SCV000270007 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing c.3228-6C>G in intron 26 of CACNA1D: This variant is not expected to have clinic al significance because it has been identified in 0.38% (92/24032) of African ch romosomes including 2 homozygotes by the Genome Aggregation Database (gnomAD, ht tp://gnomad.broadinstitute.org; dbSNP rs72556355).
Invitae RCV000901569 SCV001045946 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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