ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2936_2938dup (p.His979dup)

dbSNP: rs2144953287
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767845 SCV001999656 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame insertion of 1 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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