Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153144 | SCV000202605 | likely benign | not specified | 2016-07-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001487990 | SCV001692493 | likely benign | Smith-Lemli-Opitz syndrome | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000897661 | SCV001786025 | likely benign | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31981491, 15965973) |
Genetic Services Laboratory, |
RCV000153144 | SCV002065097 | likely benign | not specified | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415645 | SCV002727842 | uncertain significance | Inborn genetic diseases | 2019-06-18 | criteria provided, single submitter | clinical testing | The p.G70S variant (also known as c.208G>A), located in coding exon 2 of the DHCR7 gene, results from a G to A substitution at nucleotide position 208. The glycine at codon 70 is replaced by serine, an amino acid with similar properties. This variant has been reported in exome cohorts; however, clinical details were not provided (Cross JL et al. Clin. Genet., 2015 Jun;87:570-5). This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV001487990 | SCV002799980 | likely benign | Smith-Lemli-Opitz syndrome | 2021-10-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003917497 | SCV004729689 | likely benign | DHCR7-related disorder | 2022-07-05 | 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). |
Natera, |
RCV001487990 | SCV002093071 | likely benign | Smith-Lemli-Opitz syndrome | 2017-11-13 | no assertion criteria provided | clinical testing |