ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.705C>T (p.His235=)

dbSNP: rs992194912
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000944892 SCV001090874 likely benign not provided 2023-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000944892 SCV002003883 uncertain significance not provided 2021-04-07 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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