ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=)

gnomAD frequency: 0.00940  dbSNP: rs114665741
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642231 SCV000763885 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001613420 SCV001837013 benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001613420 SCV005250084 benign not provided criteria provided, single submitter not provided

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