ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=)

gnomAD frequency: 0.00003  dbSNP: rs201991581
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001463943 SCV001667899 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-10-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662604 SCV001879701 likely benign not specified 2020-10-16 criteria provided, single submitter clinical testing

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