Total submissions: 18
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229054 | SCV000290746 | benign | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000250947 | SCV000314311 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000259336 | SCV000371512 | likely benign | Meacham syndrome | 2018-04-24 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000319093 | SCV000371513 | likely benign | Wilms tumor 1 | 2018-04-24 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000373790 | SCV000371514 | likely benign | Nephrotic syndrome, type 4 | 2018-04-24 | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
ARUP Laboratories, |
RCV001668399 | SCV001159614 | benign | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000250947 | SCV001370590 | benign | not specified | 2020-05-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668399 | SCV001883532 | benign | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000250947 | SCV002072269 | benign | not specified | 2020-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243919 | SCV002515096 | benign | Drash syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002243918 | SCV002515098 | benign | Frasier syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000259336 | SCV002515099 | benign | Meacham syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000373790 | SCV002515100 | benign | Nephrotic syndrome, type 4 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000319093 | SCV002515101 | benign | Wilms tumor 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002294090 | SCV002587389 | benign | Focal segmental glomerulosclerosis | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV003588602 | SCV004360963 | benign | Nephroblastoma | 2022-09-16 | criteria provided, single submitter | clinical testing | |
Clinical Genetics Laboratory, |
RCV000250947 | SCV001906192 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001668399 | SCV001928384 | likely benign | not provided | no assertion criteria provided | clinical testing |