ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4866+10A>G

gnomAD frequency: 0.00004  dbSNP: rs746939321
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 RCV001393619 SCV001595288 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997515 SCV005621146 benign not specified 2023-10-13 criteria provided, single submitter clinical testing

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