ClinVar Miner

Submissions for variant NM_006734.4(HIVEP2):c.1033A>G (p.Ile345Val)

gnomAD frequency: 0.00462  dbSNP: rs141050437
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Total submissions: 3
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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 RCV000514192 SCV000609812 likely benign not provided 2017-05-24 criteria provided, single submitter clinical testing
Invitae RCV000514192 SCV001105444 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514192 SCV004032699 benign not provided 2023-07-01 criteria provided, single submitter clinical testing HIVEP2: BP4, BS1, BS2

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