ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.876T>C (p.Thr292=)

gnomAD frequency: 0.88277  dbSNP: rs10901065
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153752 SCV000203323 benign not specified 2013-04-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000153752 SCV000269712 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.942T) is the minor allele. This al lele (T) has been identified in 4.8% (411/8598) of European American chromosomes and 26% (1143/4406) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs10901065) and thus meets criteria to be classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510056 SCV001716992 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789212 SCV002031757 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789210 SCV002031758 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789211 SCV002031759 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718070 SCV005324386 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000153752 SCV001742296 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000153752 SCV001917311 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000153752 SCV001975880 benign not specified no assertion criteria provided clinical testing

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