ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5052G>A (p.Thr1684=)

gnomAD frequency: 0.00065  dbSNP: rs199648768
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585133 SCV000692935 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing EPG5: BP4, BP7
Invitae RCV001084904 SCV001027703 likely benign Vici syndrome 2024-01-30 criteria provided, single submitter clinical testing

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