ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3240G>A (p.Met1080Ile)

gnomAD frequency: 0.02797  dbSNP: rs76208147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518643 SCV001727378 benign Luscan-Lumish syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001610430 SCV001835428 benign not provided 2018-07-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28146470)
Genome-Nilou Lab RCV001518643 SCV002553658 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
ITMI RCV000122047 SCV000086258 not provided not specified 2013-09-19 no assertion provided reference population

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