Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000610642 | SCV000731926 | likely benign | not specified | 2017-09-28 | criteria provided, single submitter | clinical testing | p.Ala1179Ala in exon 28 of MYH14: 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 0.13% (43/34068) of Latino chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs559356437). |
ARUP Laboratories, |
RCV000757524 | SCV000885778 | benign | not provided | 2018-04-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757524 | SCV001776860 | likely benign | not provided | 2021-03-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000757524 | SCV003267104 | benign | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing |