Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216768 | SCV000271148 | likely benign | not specified | 2016-03-22 | criteria provided, single submitter | clinical testing | p.Ser708Ser in Exon 19 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.1% (15 /16370) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs369021714). |
Eurofins Ntd Llc |
RCV000725257 | SCV000335377 | uncertain significance | not provided | 2015-09-22 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000665700 | SCV000789863 | likely benign | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725257 | SCV001067796 | benign | not provided | 2020-07-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000725257 | SCV004136037 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | USH1C: BP4, BP7 |