ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.714T>C (p.Ser238=) (rs397515872)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000735194 SCV000863398 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Invitae RCV000543822 SCV000622189 likely benign Fabry disease 2017-08-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035309 SCV000058957 likely benign not specified 2016-02-12 criteria provided, single submitter clinical testing p.Ser238Ser in exon 5 of GLA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/87762 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut; dbSNP87762).

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