ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194020 SCV000226493 likely benign not specified 2015-09-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194020 SCV000248584 likely benign not specified 2015-09-18 criteria provided, single submitter clinical testing
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.
PreventionGenetics,PreventionGenetics RCV000194020 SCV000311736 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000175066 SCV000649882 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Baylor Genetics 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.
Mendelics RCV000988264 SCV001137919 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 2019-05-28 criteria provided, single submitter clinical testing

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