Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036224 | SCV000059876 | likely benign | not specified | 2015-01-29 | criteria provided, single submitter | clinical testing | p.Ser2055Ser in exon 45 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction. It has been identified in 10/17320 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). |
Eurofins Ntd Llc |
RCV000726540 | SCV000345342 | uncertain significance | not provided | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726540 | SCV000984374 | likely benign | not provided | 2020-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000726540 | SCV001082211 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726540 | SCV004131137 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | MYO7A: BP4, BP7 |
Natera, |
RCV001272821 | SCV001455187 | likely benign | Usher syndrome type 1B | 2020-04-17 | no assertion criteria provided | clinical testing |