ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.36C>T (p.Ser12=)

dbSNP: rs1216311147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841459 SCV000983426 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000841459 SCV001051810 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257995 SCV002528992 likely benign Hereditary cancer-predisposing syndrome 2020-11-09 criteria provided, single submitter curation
Ambry Genetics RCV002257995 SCV002658094 likely benign Hereditary cancer-predisposing syndrome 2020-06-30 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.

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