Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262634 | SCV001440573 | likely benign | Floating-Harbor syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004035399 | SCV004956409 | uncertain significance | Inborn genetic diseases | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.7993C>G (p.Q2665E) alteration is located in exon 34 (coding exon 32) of the SRCAP gene. This alteration results from a C to G substitution at nucleotide position 7993, causing the glutamine (Q) at amino acid position 2665 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |