Submissions for variant NM_002528.7(NTHL1):c.576C>T (p.Tyr192=)

gnomAD frequency: 0.00006  dbSNP: rs541989951

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000917526	SCV001062806	likely benign	not provided	2025-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024803	SCV001186884	likely benign	Hereditary cancer-predisposing syndrome	2018-12-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000917526	SCV001805213	likely benign	not provided	2019-10-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001024803	SCV002528991	likely benign	Hereditary cancer-predisposing syndrome	2021-07-02	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV004596372	SCV005090180	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003950848	SCV004758224	likely benign	NTHL1-related disorder	2019-11-26	no assertion criteria provided	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).