ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.802-6T>G

gnomAD frequency: 0.00004  dbSNP: rs782529392
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176576 SCV001340599 likely benign Fabry disease 2018-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001176576 SCV003293484 likely benign Fabry disease 2024-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953567 SCV004783420 likely benign GLA-related disorder 2024-03-14 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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