Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Otolaryngology – Head & Neck Surgery, |
RCV001375237 | SCV001571987 | likely benign | Stickler syndrome | 2021-04-12 | criteria provided, single submitter | clinical testing | PM2_Supporting, BS2_Supporting, BP4_Supporting |
Invitae | RCV002070248 | SCV002437474 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002550209 | SCV003732114 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.2308G>A (p.V770I) alteration is located in exon 17 (coding exon 17) of the LOXHD1 gene. This alteration results from a G to A substitution at nucleotide position 2308, causing the valine (V) at amino acid position 770 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |