ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.804C>T (p.His268=)

dbSNP: rs1596216112
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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 RCV000938932 SCV001084762 likely benign not provided 2024-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427348 SCV002679195 likely benign Hereditary cancer-predisposing syndrome 2021-03-18 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.
Breakthrough Genomics, Breakthrough Genomics RCV000938932 SCV005216941 likely benign not provided criteria provided, single submitter not provided

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