ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4591-9C>G

gnomAD frequency: 0.00005  dbSNP: rs16032
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001700178 SCV000529629 benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000433533 SCV000612546 benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000532831 SCV000656765 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700178 SCV001927048 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700178 SCV001965697 likely benign not provided no assertion criteria provided clinical testing

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