ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.7505C>A (p.Thr2502Asn)

dbSNP: rs2482372264
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003419140 SCV004116424 uncertain significance ZNF292-related disorder 2023-06-13 criteria provided, single submitter clinical testing The ZNF292 c.7505C>A variant is predicted to result in the amino acid substitution p.Thr2502Asn. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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