Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731950 | SCV000859823 | uncertain significance | not provided | 2018-02-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258951 | SCV003947129 | uncertain significance | Inborn genetic diseases | 2023-04-26 | criteria provided, single submitter | clinical testing | The c.3565C>G (p.L1189V) alteration is located in exon 27 (coding exon 26) of the ABCB4 gene. This alteration results from a C to G substitution at nucleotide position 3565, causing the leucine (L) at amino acid position 1189 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |