ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)

dbSNP: rs1599633287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001027987 SCV001524686 uncertain significance Vici syndrome 2019-12-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001027987 SCV001190737 uncertain significance Vici syndrome 2020-02-05 no assertion criteria provided clinical testing

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