ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1826-6C>A (rs140258585)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118033 SCV000152354 benign not specified 2013-09-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118033 SCV000311746 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292825 SCV000477673 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000118033 SCV000514253 benign not specified 2016-03-15 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118033 SCV000711700 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.1892-6C>A in intron 18 of POMT1: This variant is not expected to have clinical significance because it has been identified in 1.5% (125/8600) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs140258585).
Athena Diagnostics Inc RCV000712819 SCV000843353 benign not provided 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV001086685 SCV001120766 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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