ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5869+18C>T

gnomAD frequency: 0.00077  dbSNP: rs202231195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004710278 SCV005250087 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001515505 SCV001723592 benign Vici syndrome 2025-01-23 criteria provided, single submitter clinical testing

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