ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu)

dbSNP: rs1556015593
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004817773 SCV005439389 likely pathogenic not provided 2024-06-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29851191, 35183220)
Sydney Children's Hospital, SCHN RCV000664430 SCV000680072 uncertain significance X-linked intellectual disability-short stature-overweight syndrome 2018-02-02 no assertion criteria provided clinical testing

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