Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592816 | SCV000707771 | uncertain significance | not provided | 2017-04-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160049 | SCV003883771 | uncertain significance | Inborn genetic diseases | 2023-01-18 | criteria provided, single submitter | clinical testing | The c.2905C>T (p.R969C) alteration is located in exon 23 (coding exon 22) of the ABCB4 gene. This alteration results from a C to T substitution at nucleotide position 2905, causing the arginine (R) at amino acid position 969 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |