ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3629T>C (p.Val1210Ala)

dbSNP: rs2050011051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001230611 SCV001403095 uncertain significance Vici syndrome 2021-09-01 criteria provided, single submitter clinical testing

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