ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=)

gnomAD frequency: 0.00001  dbSNP: rs201844207
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001476839 SCV001681054 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883661 SCV004701962 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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