Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175546 | SCV000227050 | uncertain significance | not provided | 2015-04-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990948 | SCV001142019 | likely benign | Lesch-Nyhan syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054069 | SCV002491304 | benign | Partial hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch-Nyhan syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002516682 | SCV003707336 | likely benign | Inborn genetic diseases | 2021-10-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003927605 | SCV004740096 | likely benign | HPRT1-related condition | 2019-10-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |