ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.3385-20C>T

gnomAD frequency: 0.02046  dbSNP: rs6507647
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513181 SCV001720748 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001673085 SCV001888986 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001673085 SCV005250104 benign not provided criteria provided, single submitter not provided

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