ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) (rs117985576)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000192982 SCV000113415 likely benign not specified 2015-11-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000192982 SCV000248583 uncertain significance not specified 2015-06-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000192982 SCV000311735 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443667 SCV000511233 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000192982 SCV000514251 likely benign not specified 2017-09-19 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 RCV000515174 SCV000611504 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV001085429 SCV000649881 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000443667 SCV000843346 likely benign not provided 2017-11-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001166758 SCV001329164 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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