Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000408981 | SCV000487466 | likely pathogenic | Usher syndrome type 1 | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000410532 | SCV000487467 | likely pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001850975 | SCV002238560 | pathogenic | not provided | 2023-02-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1088*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant is present in population databases (rs376535635, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with deafness, inherited retinal disease, and/or Usher syndrome (PMID: 23591405, 30358468, 31456290, 32860223). ClinVar contains an entry for this variant (Variation ID: 371695). For these reasons, this variant has been classified as Pathogenic. |
The Shared Resource Centre "Genome", |
RCV000410532 | SCV002756446 | pathogenic | Autosomal recessive nonsyndromic hearing loss 2 | 2022-11-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005010299 | SCV005632236 | pathogenic | Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2024-02-07 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV000408981 | SCV001161147 | pathogenic | Usher syndrome type 1 | 2019-06-23 | no assertion criteria provided | research |