Submissions for variant NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln)

gnomAD frequency: 0.00978  dbSNP: rs79251326

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000114230	SCV000147787	benign	not specified	2016-07-20	criteria provided, single submitter	clinical testing
Invitae	RCV000204827	SCV000261862	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000114230	SCV000314457	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000114230	SCV000728882	benign	not specified	2017-02-09	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 Diagnostics Laboratory, University Medical Center Utrecht	RCV000625192	SCV000744076	likely benign	Meckel syndrome, type 8	2016-01-19	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625192	SCV000745547	likely benign	Meckel syndrome, type 8	2015-09-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001110871	SCV001268355	benign	Joubert syndrome 24	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000625192	SCV001270569	uncertain significance	Meckel syndrome, type 8	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV003390794	SCV004134703	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TCTN2: BP4, BS1, BS2