Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Tim Yu lab, |
RCV000149774 | SCV000928331 | pathogenic | Neuronal ceroid lipofuscinosis 7 | 2019-07-19 | criteria provided, single submitter | clinical testing | The MFSD8 c.1102C>G variant was found in a patient with a clinical phenotype consistent with classical CLN7 Batten disease. This variant has been previously reported in patients with Batten disease. It results in a missense change (p.D368H) and has also been reported to cause skipping of exon 11 (Sintola et al, 2007; Roosing et al, 2015). It is absent from gnomAD. |
OMIM | RCV000149774 | SCV000196587 | pathogenic | Neuronal ceroid lipofuscinosis 7 | 2015-01-01 | no assertion criteria provided | literature only | |
OMIM | RCV000149775 | SCV000196588 | pathogenic | Macular dystrophy with central cone involvement | 2015-01-01 | no assertion criteria provided | literature only |