Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213960 | SCV000270552 | likely benign | not specified | 2015-02-12 | criteria provided, single submitter | clinical testing | p.Pro1550Pro in exon 35 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/30922 of Europ ean (non-Finnish) chromosomes and 1/4450 of African chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org). |
Invitae | RCV001411380 | SCV001613443 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937834 | SCV004749793 | likely benign | MYO7A-related condition | 2019-07-22 | 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). |