ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.142T>A (p.Tyr48Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003314421 SCV004013748 uncertain significance Wieacker-Wolff syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.59; 3Cnet: 0.85). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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