Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035975 | SCV000059627 | uncertain significance | not specified | 2014-01-17 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Ambry Genetics | RCV004017303 | SCV004849159 | uncertain significance | Cardiovascular phenotype | 2019-01-09 | criteria provided, single submitter | clinical testing | The c.5660A>G (p.E1887G) alteration is located in exon 39 (coding exon 37) of the MYH7 gene. This alteration results from a A to G substitution at nucleotide position 5660, causing the glutamic acid (E) at amino acid position 1887 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |