ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.891T>C (p.Ser297=)

gnomAD frequency: 0.00005  dbSNP: rs782575087
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873053 SCV001014978 likely benign Fabry disease 2023-11-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000873053 SCV002053236 likely benign Fabry disease 2021-06-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873053 SCV002081336 likely benign Fabry disease 2021-04-21 no assertion criteria provided clinical testing

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