ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.*18C>G

gnomAD frequency: 0.14533  dbSNP: rs1876465
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179477 SCV000231732 benign not specified 2015-05-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000179477 SCV000312113 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000179477 SCV000519769 benign not specified 2016-07-08 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.
Genome-Nilou Lab RCV001838557 SCV002098527 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2021-09-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706618 SCV005228993 benign not provided criteria provided, single submitter not provided

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