ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.1758G>A (p.Arg586=) (rs34954751)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712815 SCV000843349 benign not provided 2017-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000118032 SCV000171150 benign not specified 2014-03-21 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 RCV000118032 SCV000152353 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Invitae RCV000528768 SCV000649883 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-08-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118032 SCV000269708 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Arg586Arg in exon 17 of POMT1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3.4% (291/8600) o f European American chromosomes by the NHLBI Exome Sequencing Project (http://ev; dbSNP rs34954751).
PreventionGenetics RCV000118032 SCV000311739 benign not specified criteria provided, single submitter clinical testing

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