ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly)

gnomAD frequency: 0.00022  dbSNP: rs368132877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001462584 SCV001666504 likely benign Luscan-Lumish syndrome 2022-08-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434248 SCV004154389 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SETD2: BS1
Revvity Omics, Revvity RCV003434248 SCV004237223 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing

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