ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)

dbSNP: rs2141424841
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783749 SCV002022586 likely pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2021-04-18 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001783749 SCV002512561 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2021-10-21 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderate, PM6 supporting

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