Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV000587331 | SCV000693902 | pathogenic | Joubert syndrome 6 | 2017-06-26 | criteria provided, single submitter | research | PS1: 1 Turkish consanguineous family with 3 affected sibs homozygous for this missense variant. See OMIM entry for details. PM2: Not present in gnomAD - good coverage (60X coverage in exomes and 30X in genomes). PM5: 2 patients reported in 1 article (PMID: 19508969) with different missense variant at this position. PP1_supporting: 1 family, segregation in 3 affected for AR condition. |
OMIM | RCV000001450 | SCV000021600 | pathogenic | Nephronophthisis 11 | 2009-10-01 | no assertion criteria provided | literature only |