ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.26A>G (p.His9Arg)

gnomAD frequency: 0.00001  dbSNP: rs1555987214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090391 SCV001245922 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184278 SCV001350225 likely benign Fabry disease 2019-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001184278 SCV002054829 likely benign Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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