ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.4646+20C>T

dbSNP: rs191567436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002219083 SCV002379433 benign Vici syndrome 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710402 SCV005250093 benign not provided criteria provided, single submitter not provided

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