Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000300240 | SCV000342558 | uncertain significance | not provided | 2016-05-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000300240 | SCV003824339 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000300240 | SCV004032744 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | ABCB4: PM2, PM3 |
Prevention |
RCV004543113 | SCV004779262 | likely pathogenic | ABCB4-related disorder | 2024-01-17 | criteria provided, single submitter | clinical testing | The ABCB4 c.2165G>C variant is predicted to result in the amino acid substitution p.Gly722Ala. This variant has been reported in the heterozygous or compound heterozygous state in individuals with intrahepatic cholestasis of pregnancy (Patient 9 in Table 1, Dixon et al. 2017. PubMed ID: 28924228; Case 4 in Table 2, Huynh et al. 2019. PubMed ID: 31538484). This variant has also been reported in the compound heterozygous state in two siblings and an unrelated individual with progressive familial intrahepatic cholestasis type 3 (Patients 2, 30, and 31 in Tables 2 and 3, Schatz et al. 2018. PubMed ID: 29761167). This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as likely pathogenic. |