ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.367-10A>T

gnomAD frequency: 0.00006  dbSNP: rs113764055
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001651677 SCV001862085 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495975 SCV002802029 likely benign Brugada syndrome 2 2021-09-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910941 SCV004724499 likely benign GPD1L-related disorder 2019-08-09 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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