ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.123C>T (p.Thr41=) (rs137902198)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620993 SCV000739894 likely benign Cardiovascular phenotype 2013-11-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769543 SCV000900939 uncertain significance Cardiomyopathy 2016-08-25 criteria provided, single submitter clinical testing
Color RCV000771998 SCV000904954 likely benign Fabry disease 2018-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000430508 SCV000513153 benign not specified 2015-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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