ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4745T>C (p.Leu1582Pro)

dbSNP: rs1345938343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332378 SCV001524691 uncertain significance Vici syndrome 2019-07-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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