ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)

gnomAD frequency: 0.00005  dbSNP: rs758625682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703120 SCV000832002 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-05-25 criteria provided, single submitter clinical testing
GeneDx RCV001561162 SCV001783706 uncertain significance not provided 2021-01-19 criteria provided, single submitter clinical testing 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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