ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.78G>A (p.Gly26=) (rs149554732)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000118037 SCV000227399 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118037 SCV000311762 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358291 SCV000477649 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 2018-01-12 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 RCV000118037 SCV000514249 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.
Invitae RCV001080506 SCV000649907 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-11-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000544741 SCV001145186 benign not provided 2019-04-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118037 SCV000152360 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.

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