ClinVar Miner

Submissions for variant NM_015141.4(GPD1L):c.619-9C>G

gnomAD frequency: 0.00057  dbSNP: rs2044880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080916 SCV000561195 benign Brugada syndrome 2025-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000827827 SCV000969490 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489127 SCV002806557 likely benign Brugada syndrome 2 2021-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114601 SCV003801103 benign not specified 2023-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960095 SCV004771975 likely benign GPD1L-related disorder 2024-01-16 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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