ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.39G>C (p.Arg13=)

dbSNP: rs1282431142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025227 SCV001187376 likely benign Hereditary cancer-predisposing syndrome 2019-09-21 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001412726 SCV001614823 likely benign not provided 2024-08-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001025227 SCV002529000 likely benign Hereditary cancer-predisposing syndrome 2021-09-17 criteria provided, single submitter curation

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