Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825361 | SCV000966656 | uncertain significance | not specified | 2018-10-30 | criteria provided, single submitter | clinical testing | The p.Val893Met variant in LOXHD1 has not been previously reported in individual s with hearing loss but has been identified in 0.03% (8/24730) of Latino chromos omes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Val893Met vari ant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting. |
Ambry Genetics | RCV003279121 | SCV003953787 | uncertain significance | Inborn genetic diseases | 2023-04-19 | criteria provided, single submitter | clinical testing | The c.2677G>A (p.V893M) alteration is located in exon 19 (coding exon 19) of the LOXHD1 gene. This alteration results from a G to A substitution at nucleotide position 2677, causing the valine (V) at amino acid position 893 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001275061 | SCV001459815 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 77 | 2020-01-24 | no assertion criteria provided | clinical testing |