ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=)

gnomAD frequency: 0.00004  dbSNP: rs772301380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001402853 SCV001604711 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883627 SCV004700485 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7

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