ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) (rs150367385)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000680152 SCV000807617 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory homozygous in a 1-year-old male with global delays, regression, hypotonia, refractory epilepsy, acquired microcephaly, mild optic nerve atrophy, cerebral atrophy, possible cervical stenosis. Heterozygotes would be expected to be asymptomatic carriers.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000175066 SCV000280635 likely benign not provided 2016-05-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194020 SCV000226493 likely benign not specified 2015-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000194020 SCV000196867 benign not specified 2017-10-30 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.
Genetic Services Laboratory, University of Chicago RCV000194020 SCV000248584 likely benign not specified 2015-09-18 criteria provided, single submitter clinical testing
Invitae RCV000554888 SCV000649882 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-12-20 criteria provided, single submitter clinical testing
PreventionGenetics RCV000194020 SCV000311736 likely benign not specified criteria provided, single submitter clinical testing

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