ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)

dbSNP: rs148858485
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725546 SCV000337672 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000274574 SCV000529460 likely benign not specified 2018-02-08 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 RCV001083505 SCV000649666 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083505 SCV001303107 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.
Genome-Nilou Lab RCV001509578 SCV001716388 likely benign Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725546 SCV004154966 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing DYSF: BP4, BP7
Natera, Inc. RCV001276446 SCV001462793 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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