Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036095 | SCV000059747 | likely benign | not specified | 2010-09-16 | criteria provided, single submitter | clinical testing | Leu950Leu in exon 23 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction. |
Counsyl | RCV000667296 | SCV000791727 | likely benign | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513370 | SCV003450684 | likely benign | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing |