ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.558G>A (p.Pro186=)

gnomAD frequency: 0.00012  dbSNP: rs183095591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652634 SCV000774505 likely benign Luscan-Lumish syndrome 2022-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437384 SCV004154399 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SETD2: BP4, BP7, BS1

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