ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)

dbSNP: rs2141540759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274471 SCV002559200 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation criteria provided, single submitter clinical testing

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