ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly)

gnomAD frequency: 0.00659  dbSNP: rs141536395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247677 SCV000312115 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000530916 SCV000652990 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000247677 SCV000714559 benign not specified 2017-05-02 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.
Fulgent Genetics, Fulgent Genetics RCV002500907 SCV002809621 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2022-04-20 criteria provided, single submitter clinical testing

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