ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.978+9T>C

gnomAD frequency: 0.00041  dbSNP: rs111366222
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726240 SCV000343120 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087586 SCV000656806 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-25 criteria provided, single submitter clinical testing
GeneDx RCV000357921 SCV000723604 likely benign not specified 2017-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV003985318 SCV004780958 likely benign CACNA1A-related disorder 2020-04-29 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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