Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000656852 | SCV000241410 | uncertain significance | not provided | 2024-08-25 | criteria provided, single submitter | clinical testing | Observed with a second variant on the opposite allele (in trans) in a patient with Rett syndrome; however, evidence in support of pathogenicity for these variants was not provided in the report (PMID: 27171548); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27171548) |
Eurofins Ntd Llc |
RCV000656852 | SCV000336762 | uncertain significance | not provided | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000463470 | SCV000552195 | likely benign | EAST syndrome | 2025-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000656852 | SCV000842577 | uncertain significance | not provided | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV004577730 | SCV001255840 | uncertain significance | Hearing loss, autosomal recessive | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV000463470 | SCV001255841 | uncertain significance | EAST 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Baylor Genetics | RCV001334026 | SCV001526761 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4 | 2018-01-16 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002408834 | SCV002717266 | likely benign | Inborn genetic diseases | 2024-04-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV005003542 | SCV002816681 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome | 2024-04-08 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000656852 | SCV005408291 | uncertain significance | not provided | 2024-06-18 | criteria provided, single submitter | clinical testing | BP5, PM2 |