Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036447 | SCV000060102 | benign | not specified | 2011-11-03 | criteria provided, single submitter | clinical testing | 1545-5T>G in intron 13 of SLC26A4: This variant is not expected to have clinical significance because it has been identified dbSNP in 4.3% (20/468 chromosomes) of a broad population (dbSNP rs77944876). |
Eurofins Ntd Llc |
RCV000036447 | SCV000340576 | benign | not specified | 2016-04-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000884663 | SCV000605144 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000884663 | SCV000730596 | benign | not provided | 2018-09-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23280318, 27884173, 16570074, 21704276, 28389359) |
Invitae | RCV000884663 | SCV001028058 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000884663 | SCV001145684 | benign | not provided | 2018-09-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496561 | SCV002806697 | benign | Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome | 2022-05-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000884663 | SCV003917545 | benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | SLC26A4: BP4, BS1, BS2 |
Natera, |
RCV001277149 | SCV001463977 | benign | Pendred syndrome | 2020-01-08 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000036447 | SCV001921346 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000036447 | SCV001958428 | benign | not specified | no assertion criteria provided | clinical testing |