Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036479 | SCV000060134 | likely benign | not specified | 2012-05-04 | criteria provided, single submitter | clinical testing | Gln730His in exon 19 of SLC26A4: This variant is not expected to have clinical s ignificance because it is has been identified in 0.3% (11/3738) of African Ameri can chromosomes from a broad population by the NHLBI Exome sequencing project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs142723249). |
Eurofins Ntd Llc |
RCV000036479 | SCV000334674 | likely benign | not specified | 2015-08-25 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000671237 | SCV000796192 | uncertain significance | Pendred syndrome | 2017-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000893561 | SCV001037505 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000671237 | SCV001137437 | benign | Pendred syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000893561 | SCV001793197 | likely benign | not provided | 2020-06-29 | criteria provided, single submitter | clinical testing | Observed heterozygous in unrelated patients with hearing loss in published literature (Landa et al., 2013; Chen et al., 2011); This variant is associated with the following publications: (PMID: 30245029, 21704276, 23965030) |
Genome- |
RCV001785463 | SCV002027462 | likely benign | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000671237 | SCV002027473 | likely benign | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671237 | SCV001463984 | likely benign | Pendred syndrome | 2020-01-11 | no assertion criteria provided | clinical testing |