ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3533A>G (p.Gln1178Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003140420 SCV003807104 uncertain significance Vici syndrome 2023-02-02 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM3 supporting, BP4 supporting

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