ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.667A>C (p.Asn223His)

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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 RCV002289360 SCV002580151 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2022-06-20 criteria provided, single submitter clinical testing

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