ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.5869+12C>T

gnomAD frequency: 0.00009  dbSNP: rs375719080
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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 RCV002183736 SCV002478886 likely benign Vici syndrome 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587323 SCV005077280 likely benign not specified 2024-04-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703246 SCV005215332 likely benign not provided criteria provided, single submitter not provided

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