ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.485-8C>T

gnomAD frequency: 0.00005  dbSNP: rs778120645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000866080 SCV001007128 likely benign Weaver syndrome 2024-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003884762 SCV004701642 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing EZH2: BP4

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