Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000522560 | SCV000616491 | likely benign | RASopathy | 2017-04-18 | reviewed by expert panel | curation | The filtering allele frequency of the c.124G>A (p.Ala42Thr) variant in the RAF1 gene is 0.026% (25/66738) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as likely benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BS1; PMID:29493581) |
Invitae | RCV000522560 | SCV001129686 | likely benign | RASopathy | 2021-12-09 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000981699 | SCV001153800 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | RAF1: BS1, BS2 |
Illumina Laboratory Services, |
RCV001146206 | SCV001306936 | uncertain significance | LEOPARD syndrome 2 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001146207 | SCV001306937 | uncertain significance | Noonan syndrome 5 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Genome Diagnostics Laboratory, |
RCV001813492 | SCV002060601 | likely benign | Noonan syndrome and Noonan-related syndrome | 2018-09-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541627 | SCV004768497 | likely benign | RAF1-related disorder | 2020-01-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |