ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala)

dbSNP: rs2144537372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001665550 SCV001880236 uncertain significance not provided 2020-10-16 criteria provided, single submitter clinical testing
GeneDx RCV001665550 SCV005079981 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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