Submissions for variant NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) (rs121908954)

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Total submissions: 11

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics,PreventionGenetics	RCV000153183	SCV000309678	likely benign	not specified		criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000153183	SCV000332041	benign	not specified	2015-07-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000153183	SCV000512918	likely benign	not specified	2018-03-06	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.
Athena Diagnostics Inc	RCV000658868	SCV000613205	benign	not provided	2018-09-28	criteria provided, single submitter	clinical testing
Invitae	RCV000509353	SCV000649673	benign	Qualitative or quantitative defects of dysferlin	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000658868	SCV000780667	likely benign	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000681611	SCV001135888	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001137897	SCV001297889	uncertain significance	DYSF-Related Disorders	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM	RCV000007049	SCV000027245	pathogenic	Miyoshi muscular dystrophy 1	1998-09-01	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV000509353	SCV000606886	not provided	Qualitative or quantitative defects of dysferlin		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
OMIM	RCV000681611	SCV000809051	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2B	1998-09-01	no assertion criteria provided	literature only

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