ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.986+9A>G

gnomAD frequency: 0.00077  dbSNP: rs202095070
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192918 SCV000248580 uncertain significance not specified 2014-07-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000192918 SCV000311726 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000192918 SCV000342841 likely benign not specified 2017-06-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000349139 SCV000477657 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000532464 SCV000525354 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV001085720 SCV000649863 likely 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 RCV000532464 SCV001145174 benign not provided 2018-09-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000532464 SCV001931732 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000192918 SCV001976004 benign not specified no assertion criteria provided clinical testing

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