ClinVar Miner

Submissions for variant NM_000421.5(KRT10):c.1749-10A>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 RCV003224699 SCV003920140 likely benign Epidermolytic ichthyosis; Congenital reticular ichthyosiform erythroderma; Ichthyosis hystrix gravior; Ichthyosis, annular epidermolytic 1 2022-10-11 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: 0.06% [25/41430]; https://gnomad.broadinstitute.org/variant/17-40818492-T-C?dataset=gnomad_r3). Although this variant occurs in the splice region, computational prediction tools do not suggest that it alters splicing. However, further studies are needed to understand its impact. This variant was also identified in an internal patient with alternate molecular basis for disease. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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