Submissions for variant NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)

dbSNP: rs148858485

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725593	SCV000338005	uncertain significance	not provided	2017-12-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000725593	SCV000568134	likely benign	not provided	2018-12-13	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26764160, 16010686, 25900324, 32528171)
Invitae	RCV001081328	SCV000649665	likely benign	Qualitative or quantitative defects of dysferlin	2024-01-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001081328	SCV001303106	uncertain significance	Qualitative or quantitative defects of dysferlin	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics	RCV000725593	SCV001477222	uncertain significance	not provided	2020-03-13	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000725593	SCV001713180	uncertain significance	not provided	2020-04-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725593	SCV004183751	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	DYSF: BP4
Natera, Inc.	RCV001272833	SCV001455224	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-01-06	no assertion criteria provided	clinical testing