Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156547 | SCV000206266 | likely benign | not specified | 2014-05-29 | criteria provided, single submitter | clinical testing | Ala3230Thr in exon 49 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, three mammals (sheep, domestic gaot, and Tibetan antelope) have a Thr (Thre onine) at this position. In addition, computational prediction tools suggest thi s variant may not impact the protein. |
Eurofins Ntd Llc |
RCV000727102 | SCV000705699 | uncertain significance | not provided | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001276957 | SCV001653471 | likely benign | Usher syndrome type 2A | 2021-05-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000727102 | SCV002049052 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000727102 | SCV003277793 | likely benign | not provided | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515026 | SCV003656743 | uncertain significance | Inborn genetic diseases | 2021-07-09 | criteria provided, single submitter | clinical testing | The c.9688G>A (p.A3230T) alteration is located in exon 49 (coding exon 48) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 9688, causing the alanine (A) at amino acid position 3230 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001276957 | SCV001463650 | uncertain significance | Usher syndrome type 2A | 2019-11-06 | no assertion criteria provided | clinical testing |