Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594920 | SCV000701113 | pathogenic | not provided | 2016-02-02 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000594920 | SCV003831935 | likely pathogenic | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV003159090 | SCV003852655 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2023-03-31 | criteria provided, single submitter | clinical testing | A homozygous missense variant in exon 10 of the DYSF gene that results in the amino acid substitution of Tryptophan for Glycine at codon 331 (p.Gly331Trp) was detected. The p.Gly331Trp variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2) databases. The in silico predictions of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic. |
OMIM | RCV000007069 | SCV000027265 | pathogenic | Miyoshi muscular dystrophy 1 | 2008-03-01 | no assertion criteria provided | literature only |