ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser)

dbSNP: rs1603326578
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995899 SCV001150290 likely pathogenic X-linked intellectual disability-short stature-overweight syndrome 2019-08-08 criteria provided, single submitter clinical testing

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