ClinVar Miner

Submissions for variant NM_001393769.1(MED12L):c.3664+2T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147873 SCV003835253 likely pathogenic Nizon-Isidor syndrome 2022-10-18 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV003147873 SCV004242208 uncertain significance Nizon-Isidor syndrome 2023-02-14 no assertion criteria provided clinical testing This variant has not been described in ClinVar nor reported previously. This variant has not been observed in gnomAD database. This variant is predicted to be deleterious (CADD 34) and to disrupt normal splicing pattern (Splice AI: DL 1). The evolutionary conservation of this site is high.

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