Submissions for variant NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=)

dbSNP: rs115504901

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248204	SCV000314431	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000248204	SCV000339121	benign	not specified	2016-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000305694	SCV000417605	uncertain significance	Nephronophthisis 12	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000358176	SCV000417606	uncertain significance	Asphyxiating thoracic dystrophy 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV000756832	SCV000563189	benign	Jeune thoracic dystrophy; Nephronophthisis	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001311939	SCV000729107	likely benign	not provided	2021-11-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001311939	SCV000884762	benign	not provided	2022-03-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311939	SCV001502325	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	TTC21B: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278218	SCV002567142	likely benign	Connective tissue disorder	2021-09-07	criteria provided, single submitter	clinical testing