Submissions for variant NM_024753.5(TTC21B):c.838A>G (p.Met280Val)

gnomAD frequency: 0.01295  dbSNP: rs112868646

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000118733	SCV000232786	benign	not specified	2014-09-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000118733	SCV000314439	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000300296	SCV000417665	likely benign	Asphyxiating thoracic dystrophy 4	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000359707	SCV000417666	likely benign	Nephronophthisis 12	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000118733	SCV000518772	benign	not specified	2016-09-20	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.
Invitae	RCV001079775	SCV000563193	benign	Jeune thoracic dystrophy; Nephronophthisis	2024-01-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573083	SCV000605479	benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277183	SCV002567147	likely benign	Connective tissue disorder	2019-08-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505050	SCV002805647	benign	Asphyxiating thoracic dystrophy 4; Nephronophthisis 12	2021-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573083	SCV004147157	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	TTC21B: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000118733	SCV000153163	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573083	SCV001798427	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118733	SCV001932486	benign	not specified		no assertion criteria provided	clinical testing