Submissions for variant NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)

gnomAD frequency: 0.01296  dbSNP: rs80026831

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000118730	SCV000231790	benign	not specified	2014-09-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000118730	SCV000314436	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000386132	SCV000417675	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000296525	SCV000417676	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	RCV000118730	SCV000518771	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086745	SCV000563187	benign	Jeune thoracic dystrophy; Nephronophthisis	2025-02-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573936	SCV000605477	benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277182	SCV002567146	likely benign	Connective tissue disorder	2019-08-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490817	SCV002798524	benign	Asphyxiating thoracic dystrophy 4; Nephronophthisis 12	2021-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573936	SCV004147160	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	TTC21B: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001573936	SCV005256449	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000118730	SCV000153161	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)	RCV001573936	SCV001800527	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000118730	SCV001926667	benign	not specified		no assertion criteria provided	clinical testing