ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.*5C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998010 SCV005623943 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing The NTHL1 c.*5C>T variant has not been reported in individuals with NTHL1-related conditions in the published literature. The frequency of this variant in the general population, 0.000098 (3/30554 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.

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