Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000369696 | SCV000341809 | uncertain significance | not provided | 2016-06-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000369696 | SCV001033849 | likely benign | not provided | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000369696 | SCV001790000 | likely benign | not provided | 2020-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001785546 | SCV002027151 | likely benign | Autosomal recessive nonsyndromic hearing loss 4 | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001275105 | SCV002027162 | likely benign | Pendred syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910006 | SCV004721498 | likely benign | SLC26A4-related condition | 2020-01-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001275105 | SCV001459867 | likely benign | Pendred syndrome | 2020-06-05 | no assertion criteria provided | clinical testing |