Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000539515 | SCV000623166 | likely benign | Beckwith-Wiedemann syndrome | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000735112 | SCV000863312 | uncertain significance | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506285 | SCV002815578 | likely benign | Beckwith-Wiedemann syndrome; IMAGe syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004975615 | SCV005559270 | uncertain significance | Inborn genetic diseases | 2024-08-28 | criteria provided, single submitter | clinical testing | The c.584T>C (p.V195A) alteration is located in exon 1 (coding exon 1) of the CDKN1C gene. This alteration results from a T to C substitution at nucleotide position 584, causing the valine (V) at amino acid position 195 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |