Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000383770 | SCV000434867 | likely benign | Hirschsprung disease, susceptibility to, 4 | 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. |
Center for Human Genetics, |
RCV000659492 | SCV000781309 | pathogenic | Waardenburg syndrome type 4B | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000659492 | SCV003832046 | likely pathogenic | Waardenburg syndrome type 4B | 2023-02-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912427 | SCV004735159 | pathogenic | EDN3-related condition | 2024-01-08 | criteria provided, single submitter | clinical testing | The EDN3 c.293C>A variant is predicted to result in the amino acid substitution p.Thr98Lys. This variant was reported in the homozygous or compound heterozygous states in four individuals with Waardenburg syndrome, with depigmentation noted in heterozygotes (Table S4, Pingault. 2010. PubMed ID: 20127975). This variant is reported in 0.016% of alleles in individuals of South Asian descent in gnomAD. A different substitution at this amino acid position (p.Thr98Met) has been reported as pathogenic (Mohseni. 2021. PubMed ID: 33713422; Kapoor. 2012. PubMed ID: 22876130). This variant is interpreted as pathogenic. |