Submissions for variant NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)

gnomAD frequency: 0.00008  dbSNP: rs775539496

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726444	SCV000344685	uncertain significance	not provided	2017-02-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000304844	SCV000719635	likely benign	not specified	2017-05-25	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.
Invitae	RCV000804560	SCV000944476	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000726444	SCV001879877	uncertain significance	not provided	2021-01-15	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000726444	SCV003831351	uncertain significance	not provided	2021-05-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001279899	SCV001467036	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-04-03	no assertion criteria provided	clinical testing