ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1871T>C (p.Leu624Pro)

dbSNP: rs2145906621
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226995 SCV002505913 uncertain significance Vici syndrome 2021-08-01 criteria provided, single submitter clinical testing

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