ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.620A>C (p.Tyr207Ser) (rs797044727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728586 SCV000856178 likely pathogenic not provided 2017-08-03 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709851 SCV000840183 not provided Fabry disease no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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