ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr)

gnomAD frequency: 0.00028  dbSNP: rs137871492
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548155 SCV000655739 likely benign Luscan-Lumish syndrome 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001707740 SCV001936305 benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821637 SCV002064592 uncertain significance not specified 2019-06-17 criteria provided, single submitter clinical testing

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