ClinVar Miner

Submissions for variant NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)

gnomAD frequency: 0.00295  dbSNP: rs61978576
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224558 SCV000281004 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088153 SCV000641811 benign Vici syndrome 2025-01-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000224558 SCV001930622 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726057 SCV001964551 benign not specified no assertion criteria provided clinical testing

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