Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037869 | SCV000061531 | uncertain significance | not specified | 2012-04-17 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Lys221Asn varia nt in GJB2 has not been reported in the literature in any individuals with heari ng loss nor previously identified by our laboratory. However, this variant has b een identified in 0.01% (1/6984) of European American chromosomes in a broad pop ulation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/ ). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. In summary, th e clinical significance of this variant cannot be determined with certainty. |
Division of Genomic Diagnostics, |
RCV000505528 | SCV000599766 | uncertain significance | Deafness, autosomal recessive 1A | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000505528 | SCV000795432 | uncertain significance | Deafness, autosomal recessive 1A | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765114 | SCV000896336 | uncertain significance | Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 | 2018-10-31 | criteria provided, single submitter | clinical testing |