Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155585 | SCV000205293 | uncertain significance | not specified | 2013-04-08 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Ile382del varia nt in TJP2 has not been reported in affected individuals, but has been identifie d in 0.07% (6/8254) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs2 01033926). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. This variant causes a n in-frame deletion of a single amino acid isoleucine (Ile)] at position 382 tha t is not highly conserved in mammals and across evolutionarily distant species. In summary, the clinical significance of this variant cannot be determined with certainty; however, based upon its presence in the general population and the la ck of conservation at the amino acid position, we lean towards a more likely ben ign role. |
Eurofins Ntd Llc |
RCV000724040 | SCV000232666 | uncertain significance | not provided | 2014-08-05 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000391968 | SCV000480552 | uncertain significance | Nonsyndromic Hearing Loss, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002484939 | SCV002780198 | uncertain significance | Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724040 | SCV004549793 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing |