ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) (rs73122634)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415742 SCV000493527 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000415742 SCV000510941 likely benign not provided 2016-11-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000249001 SCV000730853 benign not specified 2017-04-20 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 RCV000534165 SCV000652996 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249001 SCV000312118 likely benign not specified criteria provided, single submitter clinical testing

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