ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6162G>A (p.Thr2054=)

gnomAD frequency: 0.00051  dbSNP: rs368651243
Minimum review status: Collection method:
Minimum conflict level:
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 RCV003992359 SCV004811190 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing EPG5: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV000642218 SCV000763872 benign Vici syndrome 2025-12-29 criteria provided, single submitter clinical testing

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