Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Developmental Genetics, |
RCV001257295 | SCV001433841 | pathogenic | Pituitary stalk interruption syndrome | 2020-04-01 | criteria provided, single submitter | research | |
Institute of Human Genetics, |
RCV001257295 | SCV001468615 | uncertain significance | Pituitary stalk interruption syndrome | 2021-01-09 | criteria provided, single submitter | curation | This variant was reported as ENST00000464233:c.719G>C,p.Cys240Ser in an individual (Patient 4 (F); Patient 5 (F)) with Pituitary Stalk Interruption Syndrome (PMID: 28402530 (bashamboo2017)). Inheritance was reported as dominant (heterozygous) (paternal). The variant was reviewed according to current ACMG recommendations and classified as Uncertain Significance (criteria: PM2_Supporting, PP3_Supporting) at the variant level; the gene-disease association is currently not established in curated databases. |
OMIM | RCV003224885 | SCV003853323 | pathogenic | Pituitary hormone deficiency, combined or isolated, 8 | 2023-04-05 | no assertion criteria provided | literature only |