ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4320A>T (p.Pro1440=)

gnomAD frequency: 0.00191  dbSNP: rs74485823
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540841 SCV000655744 benign Luscan-Lumish syndrome 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001287945 SCV001474715 benign not specified 2019-11-08 criteria provided, single submitter clinical testing
GeneDx RCV001548205 SCV001768074 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001287945 SCV002071049 benign not specified 2018-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000540841 SCV002555519 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

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