Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000250304 | SCV000314274 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000344025 | SCV000375435 | likely benign | Pseudo-Hurler polydystrophy | 2017-04-28 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV000032285 | SCV000375436 | likely benign | Mucolipidosis type II | 2017-04-28 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Center for Pediatric Genomic Medicine, |
RCV000437039 | SCV000511822 | likely benign | not provided | 2017-01-24 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001079378 | SCV001122615 | benign | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000032285 | SCV001138795 | likely benign | Mucolipidosis type II | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000437039 | SCV001816620 | likely benign | not provided | 2019-03-24 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27884173, 19617216, 25505245, 22995991) |
Al Jalila Children's Genomics Center, |
RCV000250304 | SCV001984551 | benign | not specified | 2020-03-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000250304 | SCV002051009 | likely benign | not specified | 2021-12-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001079378 | SCV002795038 | likely benign | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032285 | SCV000055928 | not provided | Mucolipidosis type II | no assertion provided | literature only | ||
Mayo Clinic Laboratories, |
RCV000437039 | SCV000800956 | benign | not provided | 2017-09-27 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000032285 | SCV001463446 | benign | Mucolipidosis type II | 2020-01-09 | no assertion criteria provided | clinical testing |