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

gnomAD frequency: 0.00077  dbSNP: rs202095070

Total submissions: 9

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
Labcorp Genetics (formerly Invitae), Labcorp	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	2025-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000192918	SCV001145174	benign	not specified	2023-12-06	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