ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp)

dbSNP: rs1603255389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sydney Children's Hospital, SCHN RCV000991318 SCV001132790 uncertain significance X-linked intellectual disability-short stature-overweight syndrome 2019-01-10 no assertion criteria provided clinical testing
OMIM RCV000991318 SCV005374891 pathogenic X-linked intellectual disability-short stature-overweight syndrome 2024-10-16 no assertion criteria provided literature only

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