ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)

gnomAD frequency: 0.04069  dbSNP: rs11243406
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081480 SCV000113411 benign not specified 2013-04-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081480 SCV000152350 benign not specified 2013-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000081480 SCV000171149 benign not specified 2013-12-21 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.
PreventionGenetics, part of Exact Sciences RCV000081480 SCV000311729 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391550 SCV000477661 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000560291 SCV000649871 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576701 SCV000677414 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2017-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001701739 SCV005317456 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000081480 SCV001740670 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000081480 SCV001920464 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701739 SCV001930301 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081480 SCV001967410 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001701739 SCV002036303 likely benign not provided no assertion criteria provided clinical testing

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