ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)

dbSNP: rs753884600
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333787 SCV001526467 uncertain significance Developmental and epileptic encephalopathy, 42 2018-02-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546650 SCV003493968 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-03-31 criteria provided, single submitter clinical testing

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