ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.6939C>T (p.Cys2313=)

gnomAD frequency: 0.00004  dbSNP: rs774873040
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000917012 SCV001062272 benign Vici syndrome 2023-12-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710212 SCV005250080 benign not provided criteria provided, single submitter not provided

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