Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001110054 | SCV001267440 | benign | Hidrotic ectodermal dysplasia syndrome | 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). 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 |
RCV001732045 | SCV001983896 | likely benign | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 26046157) |
Invitae | RCV002555071 | SCV003016693 | likely benign | Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; Hidrotic ectodermal dysplasia syndrome | 2022-05-05 | criteria provided, single submitter | clinical testing |