Submissions for variant NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)

gnomAD frequency: 0.00115  dbSNP: rs138268837

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000494287	SCV000581998	uncertain significance	not provided	2020-02-27	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics Inc	RCV000494287	SCV000613209	uncertain significance	not provided	2022-04-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000494287	SCV000709580	uncertain significance	not provided	2017-12-19	criteria provided, single submitter	clinical testing
Invitae	RCV001085319	SCV000769837	likely benign	Qualitative or quantitative defects of dysferlin	2023-12-10	criteria provided, single submitter	clinical testing
Counsyl	RCV000672486	SCV000797593	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B	2018-01-31	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000494287	SCV000927747	uncertain significance	not provided	2018-06-12	criteria provided, single submitter	clinical testing
Mendelics	RCV000672486	SCV001135889	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2B	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085319	SCV001301204	uncertain significance	Qualitative or quantitative defects of dysferlin	2017-04-28	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.
Genome-Nilou Lab	RCV001449591	SCV001652754	uncertain significance	Miyoshi muscular dystrophy 1	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000494287	SCV001746652	uncertain significance	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000494287	SCV003830897	uncertain significance	not provided	2023-06-29	criteria provided, single submitter	clinical testing