Submissions for variant NM_001384732.1(CPLANE1):c.81+20=

gnomAD frequency: 0.99994  dbSNP: rs6876576

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000145381	SCV000314212	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000145381	SCV000516208	benign	not specified	2016-01-08	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	RCV000601886	SCV000744333	benign	Joubert syndrome 17	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517678	SCV001726226	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000601886	SCV001775894	benign	Joubert syndrome 17	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554628	SCV001775895	benign	Orofaciodigital syndrome type 6	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001517678	SCV005298022	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000145381	SCV000192462	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000601886	SCV000734411	benign	Joubert syndrome 17		no assertion criteria provided	clinical testing