Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000278721 | SCV000335831 | uncertain significance | not provided | 2017-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000792442 | SCV000931742 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002518888 | SCV003760819 | uncertain significance | Inborn genetic diseases | 2022-05-16 | criteria provided, single submitter | clinical testing | The c.4301C>T (p.S1434L) alteration is located in exon 39 (coding exon 39) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 4301, causing the serine (S) at amino acid position 1434 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV000278721 | SCV003829618 | uncertain significance | not provided | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003909953 | SCV004723696 | likely benign | DYSF-related condition | 2022-06-23 | 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, |
RCV001274838 | SCV001459354 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-10-28 | no assertion criteria provided | clinical testing |