ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.1944-3C>T

gnomAD frequency: 0.00022  dbSNP: rs376498905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931464 SCV001077130 likely benign Vici syndrome 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544437 SCV003552754 uncertain significance Inborn genetic diseases 2021-04-29 criteria provided, single submitter clinical testing The c.1944-3C>T intronic alteration consists of a C to T substitution 3 nucleotides before exon 10 of the EPG5 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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