ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala)

gnomAD frequency: 0.00063  dbSNP: rs145759179
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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 RCV000546373 SCV000655730 likely benign Luscan-Lumish syndrome 2024-04-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000122027 SCV002071051 benign not specified 2020-04-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000546373 SCV002553692 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003436935 SCV004154382 benign not provided 2022-05-01 criteria provided, single submitter clinical testing SETD2: BS1, BS2
ITMI RCV000122027 SCV000086238 not provided not specified 2013-09-19 no assertion provided reference population

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