ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala)

gnomAD frequency: 0.00073  dbSNP: rs527691624
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000908809 SCV001053589 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000908809 SCV001844152 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540782 SCV003582142 likely benign Inborn genetic diseases 2021-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000908809 SCV004140839 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1G: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004541930 SCV004775972 likely benign CACNA1G-related disorder 2023-02-13 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000908809 SCV001798873 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000908809 SCV001929897 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000908809 SCV001970421 likely benign not provided no assertion criteria provided clinical testing

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