Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004637525 | SCV005136858 | uncertain significance | not specified | 2024-05-21 | criteria provided, single submitter | clinical testing | The c.1832A>G (p.E611G) alteration is located in exon 3 (coding exon 3) of the LRIF1 gene. This alteration results from a A to G substitution at nucleotide position 1832, causing the glutamic acid (E) at amino acid position 611 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |