Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593963 | SCV000708746 | likely pathogenic | not provided | 2017-05-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000644518 | SCV000766217 | pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2017-09-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln72*) in the FGFR1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FGFR1 are known to be pathogenic (PMID: 12627230). This variant has been reported in an individual affected with Kallman syndrome (PMID: 27502037). This variant is not present in population databases (ExAC no frequency). |
Fulgent Genetics, |
RCV002483651 | SCV002796643 | likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-10-11 | criteria provided, single submitter | clinical testing |