Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001243653 | SCV001416825 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001243653 | SCV002012906 | uncertain significance | not provided | 2021-05-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002568569 | SCV003708202 | uncertain significance | Inborn genetic diseases | 2021-06-11 | criteria provided, single submitter | clinical testing | The c.5260A>G (p.T1754A) alteration is located in exon 24 (coding exon 24) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 5260, causing the threonine (T) at amino acid position 1754 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |