ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.1080G>A (p.Met360Ile)

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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 RCV002303808 SCV002593606 benign not provided 2023-08-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738573 SCV005341664 uncertain significance ZBTB18-related disorder 2024-03-29 no assertion criteria provided clinical testing The ZBTB18 c.1080G>A variant is predicted to result in the amino acid substitution p.Met360Ile. 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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