ClinVar Miner

Submissions for variant NM_015331.3(NCSTN):c.1179+6C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224711 SCV003920271 uncertain significance Acne inversa, familial, 1 2022-06-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.01% [1/10078]; https://gnomad.broadinstitute.org/variant/1-160323033-C-G?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Splice prediction tools suggest that this variant may create a new splice site. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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