ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=)

dbSNP: rs17846933
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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 RCV000517833 SCV000612558 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000935688 SCV001081440 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-27 criteria provided, single submitter clinical testing

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