ClinVar Miner

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

dbSNP: rs976595665
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005791898 SCV006482790 uncertain significance Inborn genetic diseases 2025-07-16 criteria provided, single submitter clinical testing The c.3093-5C>T intronic alteration consists of a C to T substitution 5 nucleotides before coding exon 20 in the CACNA1A gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001462762 SCV001666688 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2025-10-07 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593263 SCV000704888 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing

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