Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV001169935 | SCV001251666 | uncertain significance | not specified | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Center of Genomic medicine, |
RCV000515458 | SCV001745894 | uncertain significance | Joubert syndrome 33 | 2021-07-09 | criteria provided, single submitter | clinical testing | Variant found in trans with a nonsense mutation in an individual with Joubert syndrome. |
Labcorp Genetics |
RCV002057037 | SCV002370916 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV000515458 | SCV002512489 | uncertain significance | Joubert syndrome 33 | 2022-02-17 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PM3 moderate, BS2 |
Mendelics | RCV001169935 | SCV002518844 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
UW Hindbrain Malformation Research Program, |
RCV000201558 | SCV000256460 | likely pathogenic | Familial aplasia of the vermis | 2015-07-13 | flagged submission | research | |
OMIM | RCV000515458 | SCV000611544 | pathogenic | Joubert syndrome 33 | 2015-08-01 | flagged submission | literature only | |
Reproductive Health Research and Development, |
RCV000201558 | SCV001142440 | uncertain significance | Familial aplasia of the vermis | 2020-01-06 | no assertion criteria provided | curation | NM_006346.2:c.1214G>A in the PIBF1 gene has an allele frequency of 0.102 in Latino subpopulation in the gnomAD database. Wheway et al reported a pedigree of family with compound heterozygous PIBF1 variants c.1214G>A p.Arg405Gln and a genomic deletion encompassing exons 6 to 9 (c.673-?_1322+?del) of PIBF1 in affected two individuals II.5 and II.7, with phase unknown (PMID: 26167768). It was reported that this variant should be excluded from BA1 rule and has been classified as VUS according to ClinGen Sequence Variant Interpretation Working Group (PMID: 30311383). ACMG/AMP criteria applied: PM3; BS2. |