Submissions for variant NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser)

gnomAD frequency: 0.07857  dbSNP: rs33944211

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000116417	SCV000316769	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000116417	SCV000516514	benign	not specified	2016-03-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000616146	SCV000745224	benign	Joubert syndrome 8	2017-05-31	criteria provided, single submitter	clinical testing
Invitae	RCV000616146	SCV001000521	benign	Joubert syndrome 8	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116417	SCV000150341	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000616146	SCV000734293	benign	Joubert syndrome 8		no assertion criteria provided	clinical testing