Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250308 | SCV000308924 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000874596 | SCV001016788 | likely benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000874596 | SCV001151212 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | MYH3: BS2 |
Illumina Laboratory Services, |
RCV001118120 | SCV001276383 | benign | Freeman-Sheldon syndrome | 2017-05-03 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001118121 | SCV001276384 | benign | Distal arthrogryposis type 2B1 | 2017-05-03 | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV000874596 | SCV001846283 | benign | not provided | 2020-03-12 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002503937 | SCV002805898 | likely benign | Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3; Contractures, pterygia, and variable skeletal fusions syndrome 1B | 2021-08-26 | criteria provided, single submitter | clinical testing |