ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs)

dbSNP: rs1135401768
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496119 SCV000586708 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2017-08-01 criteria provided, single submitter clinical testing LOF variant in a patient with mild ID, behavioral anomalies (ADHD), obesity, height at 97th centile.

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