Submissions for variant NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)

dbSNP: rs546679270

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000403176	SCV000431733	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306031	SCV000431734	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000727415	SCV000582316	likely benign	not provided	2019-06-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27666772)
Eurofins Ntd Llc (ga)	RCV000727415	SCV000708313	uncertain significance	not provided	2018-04-13	criteria provided, single submitter	clinical testing
Counsyl	RCV000665544	SCV000789686	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B	2017-02-09	criteria provided, single submitter	clinical testing
Invitae	RCV001080579	SCV001015240	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080579	SCV001302860	uncertain significance	Qualitative or quantitative defects of dysferlin	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.
Revvity Omics, Revvity	RCV000727415	SCV003829585	likely benign	not provided	2023-08-09	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000665544	SCV001467035	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-08-13	no assertion criteria provided	clinical testing