ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.7164C>T (p.Thr2388=)

gnomAD frequency: 0.00047  dbSNP: rs144752494
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084689 SCV000655767 likely benign Luscan-Lumish syndrome 2022-10-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762111 SCV000892369 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SETD2: BP4, BP7
GeneDx RCV000762111 SCV001916082 benign not provided 2019-10-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084689 SCV002555342 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing

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