ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2543C>T (p.Ala848Val)

gnomAD frequency: 0.00870  dbSNP: rs75248784
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514303 SCV000610381 likely benign not provided 2017-04-19 criteria provided, single submitter clinical testing
Invitae RCV001083376 SCV000655722 benign Luscan-Lumish syndrome 2024-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000122033 SCV001474713 benign not specified 2019-11-08 criteria provided, single submitter clinical testing
GeneDx RCV000514303 SCV001768315 likely benign not provided 2023-07-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV000122033 SCV002071052 benign not specified 2018-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083376 SCV002553747 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
ITMI RCV000122033 SCV000086244 not provided not specified 2013-09-19 no assertion provided reference population

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