ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5700T>C (p.Phe1900=)

gnomAD frequency: 0.00308  dbSNP: rs34545102
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
Invitae RCV000534804 SCV000641832 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001644648 SCV001858322 benign not provided 2020-08-13 criteria provided, single submitter clinical testing

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