Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215575 | SCV000270455 | likely benign | not specified | 2015-11-27 | criteria provided, single submitter | clinical testing | p.Phe38Phe in exon 03 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2/10400 African chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs146210693). |
Eurofins Ntd Llc |
RCV000728432 | SCV000856009 | uncertain significance | not provided | 2017-08-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182281 | SCV001347679 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001472723 | SCV001676860 | likely benign | Hypertrophic cardiomyopathy | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347827 | SCV002618931 | uncertain significance | Cardiovascular phenotype | 2021-04-06 | criteria provided, single submitter | clinical testing | The c.114C>T variant (also known as p.F38F), located in coding exon 1 of the MYH7 gene, results from a C to T substitution at nucleotide position 114. This nucleotide substitution does not change the phenylalanine at codon 38. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |