Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041751 | SCV001205386 | likely benign | CHARGE association | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002553079 | SCV003554183 | uncertain significance | Inborn genetic diseases | 2022-11-18 | criteria provided, single submitter | clinical testing | The c.7017G>A (p.M2339I) alteration is located in exon 33 (coding exon 32) of the CHD7 gene. This alteration results from a G to A substitution at nucleotide position 7017, causing the methionine (M) at amino acid position 2339 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |