ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=)

gnomAD frequency: 0.00001  dbSNP: rs1238454656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604765 SCV000721439 likely benign not specified 2017-08-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767555 SCV004576911 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-01-25 criteria provided, single submitter clinical testing

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