Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004987019 | SCV005611828 | uncertain significance | Inborn genetic diseases | 2024-07-14 | criteria provided, single submitter | clinical testing | The c.5756T>C (p.F1919S) alteration is located in exon 37 (coding exon 37) of the LOXHD1 gene. This alteration results from a T to C substitution at nucleotide position 5756, causing the phenylalanine (F) at amino acid position 1919 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001280498 | SCV001467682 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 77 | 2020-06-25 | no assertion criteria provided | clinical testing |