ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn)

dbSNP: rs1248444650
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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 RCV001288487 SCV001475638 uncertain significance not provided 2020-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001288487 SCV005370257 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 does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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