ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1095T>C (p.Tyr365=)

gnomAD frequency: 0.00001  dbSNP: rs104894849
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242527 SCV000302834 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001428337 SCV001631034 likely benign Fabry disease 2025-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001428337 SCV002808162 likely benign Fabry disease 2022-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001428337 SCV004357514 likely benign Fabry disease 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001428337 SCV004833454 likely benign Fabry disease 2023-07-10 criteria provided, single submitter clinical testing

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