ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4089+5_4089+6del

dbSNP: rs368911651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838214 SCV000980078 likely benign not provided 2018-06-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079920 SCV001107837 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288843 SCV001476229 benign not specified 2020-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985433 SCV004760160 likely benign CACNA1A-related disorder 2023-08-10 no assertion criteria provided 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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