Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000414998 | SCV000328716 | likely benign | Cataract 4 multiple types | 2017-12-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000414998 | SCV000426673 | likely benign | Cataract 4 multiple types | 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000859322 | SCV000644751 | benign | Aculeiform cataract | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Broad Institute Rare Disease Group, |
RCV001258237 | SCV001435143 | likely benign | Joubert syndrome 17 | criteria provided, single submitter | research | The heterozygous p.Tyr56Ter variant in CRYGD has been identified in 3 Brazilian relatives from 1 family with cataracts (PMID: 19390652), but has also been identified in >3% of Latino chromosomes and 4 homozygotes by ExAC (http://gnomad.broadinstitute.org/). 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 dominant cataracts. | |
Institute of Human Genetics, |
RCV000414998 | SCV001440806 | uncertain significance | Cataract 4 multiple types | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636930 | SCV001852472 | benign | not provided | 2020-02-27 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31216405, 28849415, 27959697, 27535533, 19390652, 22995991) |
Ce |
RCV001636930 | SCV004148465 | benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | CRYGD: BS1, BS2 |