Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659646 | SCV000781489 | uncertain significance | Levy-Hollister syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003403519 | SCV004111595 | uncertain significance | FGF10-related condition | 2023-08-03 | criteria provided, single submitter | clinical testing | The FGF10 c.541A>C variant is predicted to result in the amino acid substitution p.Asn181His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |