Submissions for variant NM_017777.4(MKS1):c.191-44G>A

gnomAD frequency: 0.06342  dbSNP: rs73329636

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000114213	SCV000312934	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000835383	SCV000977174	benign	not provided	2018-06-16	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	RCV001527127	SCV001738005	benign	Bardet-Biedl syndrome 13	2021-06-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001527128	SCV001738006	benign	Joubert syndrome 28	2021-06-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000835383	SCV005250601	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000114213	SCV000147766	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.