ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.740C>T (p.Pro247Leu)

gnomAD frequency: 0.00247  dbSNP: rs140494095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528950 SCV000641837 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001538212 SCV001755828 benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000528950 SCV002810659 likely benign Vici syndrome 2021-08-17 criteria provided, single submitter clinical testing

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