ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5271C>T (p.Leu1757=)

gnomAD frequency: 0.00389  dbSNP: rs144825663
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558394 SCV000655751 benign Luscan-Lumish syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001712525 SCV001943129 benign not provided 2020-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001712525 SCV002496814 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing SETD2: BP4, BP7, BS2
Genome-Nilou Lab RCV000558394 SCV002555453 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712525 SCV005241842 benign not provided criteria provided, single submitter not provided

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