ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2259C>T (p.Asp753=)

gnomAD frequency: 0.00200  dbSNP: rs142253896
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880170 SCV001023248 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710205 SCV005250116 benign not provided criteria provided, single submitter not provided

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