Submissions for variant NM_002528.7(NTHL1):c.273C>T (p.Ile91=)

gnomAD frequency: 0.00003  dbSNP: rs751900193

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000938455	SCV001084265	likely benign	not provided	2025-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001017757	SCV001178889	likely benign	Hereditary cancer-predisposing syndrome	2018-11-16	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	RCV000938455	SCV001772945	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001017757	SCV002528951	likely benign	Hereditary cancer-predisposing syndrome	2021-06-16	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV003321766	SCV004027050	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000938455	SCV004222196	likely benign	not provided	2023-03-03	criteria provided, single submitter	clinical testing