Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221627 | SCV000270036 | likely benign | not specified | 2015-05-27 | criteria provided, single submitter | clinical testing | c.3431-6A>T in intron 29 of CDH23: This variant is not expected to have clinical significance because a thymine "T" at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 5/9778 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs377614198). |
Eurofins Ntd Llc |
RCV000727019 | SCV000704979 | uncertain significance | not provided | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727019 | SCV001066185 | likely benign | not provided | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272886 | SCV001455309 | likely benign | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |