ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.792-7C>A

dbSNP: rs1596216178
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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 RCV000806092 SCV000946073 likely benign not provided 2023-03-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000806092 SCV005623946 uncertain significance not provided 2024-09-24 criteria provided, single submitter clinical testing The NTHL1 c.816-7C>A variant has not been reported in individuals with NTHL1-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant may affect proper NTHL1 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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