Submissions for variant NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)

gnomAD frequency: 0.00204  dbSNP: rs148261539

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000729388	SCV000617037	likely benign	not provided	2022-05-24	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Eurofins Ntd Llc (ga)	RCV000729388	SCV000857044	uncertain significance	not provided	2017-10-06	criteria provided, single submitter	clinical testing
Invitae	RCV001087540	SCV001122559	likely benign	Achondrogenesis, type IA	2024-01-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000729388	SCV001157207	likely benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001087540	SCV001273466	likely benign	Achondrogenesis, type IA	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279309	SCV002567087	likely benign	Connective tissue disorder	2021-03-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000729388	SCV004130277	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	TRIP11: BS1
PreventionGenetics, part of Exact Sciences	RCV003915465	SCV004734161	likely benign	TRIP11-related condition	2022-04-14	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).