ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.979-10C>A

gnomAD frequency: 0.00008  dbSNP: rs374647321
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954362 SCV001100990 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001593149 SCV001824546 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001664572 SCV001879731 benign not specified 2021-03-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489321 SCV002802495 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985468 SCV004730320 likely benign CACNA1A-related disorder 2024-01-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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