Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000615072 | SCV000731832 | likely benign | not specified | 2017-09-14 | criteria provided, single submitter | clinical testing | p.Phe1916Phe in exon 42 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 12/18504 of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org/; dbSNP rs756514910). |
Invitae | RCV001445437 | SCV001648468 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing |