Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224063 | SCV000281113 | benign | not provided | 2015-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000224063 | SCV001101397 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989307 | SCV001139580 | benign | Thyroid dyshormonogenesis 6 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000989307 | SCV001277902 | likely benign | Thyroid dyshormonogenesis 6 | 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). 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. |
Broad Institute Rare Disease Group, |
RCV001258289 | SCV001435216 | likely benign | Meckel syndrome, type 11 | criteria provided, single submitter | research | The heterozygous p.Ala728Thr variant in DUOX2 has been identified in an individual with congenital hypothyroidism (PMID: 21565790), and has been identified in >1% of Latino chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Ala728Thr variant may not impact protein function (PMID: 21565790). However, these types of assays may not accurately represent biological function. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive congenital hypothyroidism. | |
Ce |
RCV000224063 | SCV004129755 | benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | DUOX2: BP4, BS1, BS2 |