ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.6077C>T (p.Thr2026Met)

gnomAD frequency: 0.00011  dbSNP: rs375919039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754499 SCV001985940 benign not provided 2021-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001754499 SCV003513915 benign not provided 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001754499 SCV004145680 benign not provided 2023-06-01 criteria provided, single submitter clinical testing CACNA1G: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004536284 SCV004733430 likely benign CACNA1G-related disorder 2019-02-26 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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