ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1774C>T (p.Arg592Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004585130 SCV005073792 likely pathogenic Smith-Magenis syndrome 2024-06-05 criteria provided, single submitter research A very rare variant predicted to be deleterious by most prediction programs. In addition, type of HL characteristic for treacher Collins syndrome

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