ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.699+52C>T (rs3887873)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576730 SCV000677417 benign not provided 2017-04-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081492 SCV000113423 benign not specified 2012-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000081492 SCV000171151 benign not specified 2013-12-19 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.
Genetic Services Laboratory, University of Chicago RCV000081492 SCV000152359 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000326785 SCV000477654 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555657 SCV000649905 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2018-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000081492 SCV000269710 benign not specified 2015-04-28 criteria provided, single submitter clinical testing p.Gln251Trp in exon 8 of POMT1: This variant is not expected to have clinical si gnificance because it has been identified in at least 8.8% (10687/121366) of chr omosomes from multiple diverse populations by the Exome Aggregation Consortium ( ExAC, http://exac.broadinstitute.org).
PreventionGenetics RCV000081492 SCV000311758 benign not specified criteria provided, single submitter clinical testing

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