ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.42C>T (p.Asp14=) (rs150937126)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724701 SCV000227398 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215378 SCV000270744 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing p.Asp14Asp in exon 2 of POMT1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.15% (16/10404) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs150937126).
PreventionGenetics,PreventionGenetics RCV000215378 SCV000311757 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000215378 SCV000533791 likely benign not specified 2016-11-16 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.
Invitae RCV001088411 SCV000649901 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

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