ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290095 SCV002581792 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2022-08-29 criteria provided, single submitter clinical testing

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