Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001464865 | SCV001668841 | likely benign | not provided | 2019-12-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002537866 | SCV003717832 | uncertain significance | Inborn genetic diseases | 2022-06-24 | criteria provided, single submitter | clinical testing | The c.578C>T (p.A193V) alteration is located in exon 6 (coding exon 6) of the GRHPR gene. This alteration results from a C to T substitution at nucleotide position 578, causing the alanine (A) at amino acid position 193 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001279921 | SCV001467058 | likely benign | Primary hyperoxaluria, type II | 2020-08-07 | no assertion criteria provided | clinical testing |