ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.4450-2A>G

dbSNP: rs1556005930
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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 RCV000664427 SCV000680069 likely pathogenic X-linked intellectual disability-short stature-overweight syndrome 2018-02-02 no assertion criteria provided clinical testing
OMIM RCV000664427 SCV005374888 pathogenic X-linked intellectual disability-short stature-overweight syndrome 2024-10-16 no assertion criteria provided literature only

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