ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=)

gnomAD frequency: 0.00004  dbSNP: rs368211900
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288839 SCV001476225 likely benign not provided 2019-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497171 SCV001701891 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001288839 SCV004137999 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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