ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.369T>C (p.Tyr123=)

gnomAD frequency: 0.00001  dbSNP: rs869312282
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230008 SCV000283691 likely benign Fabry disease 2023-03-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000230008 SCV001339600 likely benign Fabry disease 2019-08-14 criteria provided, single submitter clinical testing

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