ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4258G>A (p.Asp1420Asn)

gnomAD frequency: 0.00029  dbSNP: rs377196959
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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 RCV001212031 SCV001383603 likely benign Vici syndrome 2023-12-12 criteria provided, single submitter clinical testing

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