ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.295del (p.Gln99fs)

dbSNP: rs886039136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734859 SCV000863037 pathogenic not provided 2018-08-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769542 SCV000900938 likely pathogenic Cardiomyopathy 2017-08-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807342 SCV002054448 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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