Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421377 | SCV000513834 | uncertain significance | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 20613545, 21738395, 16963483) |
Counsyl | RCV000665055 | SCV000789114 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-01-10 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000825981 | SCV000967469 | uncertain significance | not specified | 2020-02-28 | criteria provided, single submitter | clinical testing | The p.Ala1340Thr variant in MYO7A has been previously reported in at least 3 individuals with hearing loss or Usher syndrome, however a variant affecting the remaining copy of MYO7A was not identified (Cremers 2007, Kimberling 2010, Vozzi 2011, LMM Unpublished data). This variant has also been identified in 0.13% (14/10342) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: BS1_Supporting. |
Invitae | RCV000421377 | SCV001541607 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001273495 | SCV001456606 | uncertain significance | Usher syndrome type 1B | 2020-09-16 | no assertion criteria provided | clinical testing |