Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003017777 | SCV003304545 | likely benign | Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003017776 | SCV003552117 | uncertain significance | Inborn genetic diseases | 2022-08-05 | criteria provided, single submitter | clinical testing | The c.124-6C>T intronic alteration consists of a C to T substitution 6 nucleotides before coding exon 2 in the ACTG1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |