Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000338998 | SCV000431062 | likely benign | Hypergonadotropic hypogonadism | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000401542 | SCV000431063 | likely benign | Leydig cell agenesis | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000280904 | SCV000431064 | likely benign | Gonadotropin-independent familial sexual precocity | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV001753800 | SCV001985288 | uncertain significance | not provided | 2019-05-29 | criteria provided, single submitter | clinical testing | Identified in a male patient with infertility who also had variant in the FSHR gene in published literature (Collodel et al., 2013); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23884663) |
Invitae | RCV001753800 | SCV003263963 | likely benign | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing |