ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3090-5C>T

dbSNP: rs976595665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593263 SCV000704888 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462762 SCV001666688 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-01-26 criteria provided, single submitter clinical testing
New York Genome Center RCV002265814 SCV002548748 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-07-16 criteria provided, single submitter clinical testing

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