Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004096051 | SCV003561684 | uncertain significance | not specified | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.295T>C (p.Y99H) alteration is located in exon 6 (coding exon 6) of the AMBN gene. This alteration results from a T to C substitution at nucleotide position 295, causing the tyrosine (Y) at amino acid position 99 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Leeds Amelogenesis Imperfecta Research Group, |
RCV003389268 | SCV003923338 | likely pathogenic | Amelogenesis imperfecta type 1F | 2023-05-04 | no assertion criteria provided | research |