Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217524 | SCV000269325 | benign | not specified | 2015-06-01 | criteria provided, single submitter | clinical testing | p.Gly1220Arg in exon 3 of MYO15A: This variant is not expected to have clinical significance it has been identified in 12/194 of CHB (Chinese) chromosomes by t he 1000 Genomes project and in 0.3% (27/9574) of African chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14675475 8). In addition, the glycine (Gly) residue at position 1220 is not conserved thr ough species, with more than 10 mammals having an arginine (Arg) at this positio n. |
Invitae | RCV000894118 | SCV001038086 | likely benign | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000894118 | SCV001823421 | likely benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23865914) |
Prevention |
RCV003907796 | SCV004721749 | likely benign | MYO15A-related condition | 2020-03-02 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |