Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003314550 | SCV004014152 | pathogenic | not provided | 2023-07-05 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 36039580, 26629483, 21682876, 26862482, 28780519, 12050219) |
OMIM | RCV000010694 | SCV000030920 | pathogenic | Hypogonadotropic hypogonadism 1 with or without anosmia | 2002-06-01 | no assertion criteria provided | literature only |