ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)

gnomAD frequency: 0.00086  dbSNP: rs149685267
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000343398 SCV000341079 uncertain significance not provided 2016-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000343398 SCV001050669 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754373 SCV005362604 likely benign CACNA1F-related disorder 2024-08-26 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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