Submissions for variant NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)

gnomAD frequency: 0.00001  dbSNP: rs567956595

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000946075	SCV001092168	benign	Qualitative or quantitative defects of dysferlin	2024-01-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001563743	SCV001786751	likely benign	Miyoshi muscular dystrophy 1	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271780	SCV001786833	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001563801	SCV001786834	likely benign	Distal myopathy with anterior tibial onset	2021-07-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003913205	SCV004731008	likely benign	DYSF-related disorder	2019-05-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc.	RCV001271780	SCV001453220	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-01-24	no assertion criteria provided	clinical testing