ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)

dbSNP: rs201789073
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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 RCV001328545 SCV001519689 uncertain significance Episodic ataxia type 2 2020-11-03 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 RCV001863186 SCV002148721 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-08-28 criteria provided, single submitter clinical testing

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