Submissions for variant NM_024809.5(TCTN2):c.891+22T>C

gnomAD frequency: 0.50676  dbSNP: rs7302449

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000114235	SCV000314466	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000834347	SCV000976116	benign	not provided	2018-06-14	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.
Genome-Nilou Lab	RCV001815184	SCV002062281	benign	Meckel syndrome, type 8	2021-07-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001815185	SCV002062283	benign	Joubert syndrome 24	2021-07-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000834347	SCV005236499	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000114235	SCV000147792	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.