Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000277103 | SCV000438626 | likely benign | PCWH syndrome | 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. |
Illumina Laboratory Services, |
RCV000325156 | SCV000438627 | likely benign | Waardenburg syndrome | 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. |
Laboratory for Molecular Medicine, |
RCV000613610 | SCV000711678 | benign | not specified | 2016-12-22 | criteria provided, single submitter | clinical testing | p.Gly41Val in exon 2 of SOX10: This variant is not expected to have clinical sig nificance because it has been identified in 0.71% (118/4634) of East Asian chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs199750760). Additionally, this variant was reported as a polymorphi sm in a case-control study on Hirschsprung disease in the Han Chinese population (Pan 2011). |
Invitae | RCV000877144 | SCV001019831 | benign | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000877144 | SCV001902903 | benign | not provided | 2019-11-14 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22008330, 30914325, 30936914) |