ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1415G>A (p.Arg472His)

gnomAD frequency: 0.00050  dbSNP: rs201984344
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878832 SCV001021810 likely benign Luscan-Lumish syndrome 2023-08-17 criteria provided, single submitter clinical testing
GeneDx RCV001672981 SCV001884654 benign not provided 2020-08-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000878832 SCV002553825 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001672981 SCV004810962 benign not provided 2024-03-01 criteria provided, single submitter clinical testing SETD2: BP4, BS1, BS2

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