ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.138C>T (p.Pro46=)

gnomAD frequency: 0.00004  dbSNP: rs752395301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000936329 SCV001082094 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012491 SCV001172949 likely benign Hereditary cancer-predisposing syndrome 2019-10-02 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268366 SCV002551612 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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