Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080363 | SCV000112259 | uncertain significance | not provided | 2012-07-10 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000664584 | SCV000788572 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 1A | 2017-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080363 | SCV001819469 | uncertain significance | not provided | 2021-03-23 | criteria provided, single submitter | clinical testing | Observed in one unaffected control individual and no affected individuals in the published literature, however, additional details were not available (Caroca et al., 2016); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 27501294) |
Natera, |
RCV000664584 | SCV002086077 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 1A | 2020-07-29 | no assertion criteria provided | clinical testing |