Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174865 | SCV001338256 | uncertain significance | not specified | 2020-02-11 | criteria provided, single submitter | clinical testing | Variant summary: FGFR1 c.-88-3566dupG (NM_023110.2) is located in the untranslated mRNA region upstream of the initiation codon. The variant is found to cause a frameshift change under a different transcript (NM_001174067: c.7dupG, p.Ala3GlyfsX27). The variant allele was found at a frequency of 7.4e-05 in 134600 control chromosomes (gnomAD). To our knowledge, no occurrence of the variant in individuals affected with FGFR1-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Fulgent Genetics, |
RCV002485836 | SCV002784887 | uncertain significance | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2022-04-04 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000722927 | SCV000854058 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |