Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000698828 | SCV000827516 | benign | Renal cell carcinoma | 2023-05-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003303168 | SCV003999618 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-22 | criteria provided, single submitter | clinical testing | The p.D372N variant (also known as c.1114G>A), located in coding exon 1 of the MET gene, results from a G to A substitution at nucleotide position 1114. The aspartic acid at codon 372 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV003465606 | SCV004192475 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 97 | 2023-10-12 | criteria provided, single submitter | clinical testing |