Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036070 | SCV000059722 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Cys652Cys in Exon 17 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/3388 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS). |
Counsyl | RCV000670890 | SCV000795803 | likely benign | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001405305 | SCV001607223 | likely benign | not provided | 2023-12-12 | criteria provided, single submitter | clinical testing |