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:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004710212 SCV005250080 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV000917012 SCV001062272 benign Vici syndrome 2025-12-11 criteria provided, single submitter clinical testing

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