Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724493 | SCV000226439 | uncertain significance | not provided | 2015-02-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000218246 | SCV000270264 | likely benign | not specified | 2015-02-26 | criteria provided, single submitter | clinical testing | p.Thr605Ile in exon 16 of HGF: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, 3 mammals (rabbit, David's myotis and big brown bat) have an isoleucine (Ile ) at this position despite high nearby amino acid conservation. In addition, it has also been identified in 6/66144 of European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147075806). |