Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004660592 | SCV005163235 | uncertain significance | not specified | 2024-05-15 | criteria provided, single submitter | clinical testing | The c.571A>T (p.T191S) alteration is located in exon 4 (coding exon 4) of the RASGRF1 gene. This alteration results from a A to T substitution at nucleotide position 571, causing the threonine (T) at amino acid position 191 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |