ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.416A>G (p.Asn139Ser) (rs138886989)

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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 RCV000253073 SCV000319853 uncertain significance Cardiovascular phenotype 2015-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
GeneDx RCV000418773 SCV000516566 likely benign not specified 2017-04-14 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.
Invitae RCV000526024 SCV000622185 likely benign Fabry disease 2017-07-07 criteria provided, single submitter clinical testing
Color RCV000526024 SCV000913821 likely benign Fabry disease 2018-07-03 criteria provided, single submitter clinical testing

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