ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2977A>G (p.Met993Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002638484 SCV003522110 likely benign not provided 2022-10-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140142 SCV003819438 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2021-05-15 criteria provided, single submitter clinical testing
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare RCV002638484 SCV004174914 uncertain significance not provided 2021-04-08 no assertion criteria provided clinical testing

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