ClinVar Miner

Submissions for variant NM_003846.3(PEX11B):c.483A>G (p.Gly161=)

gnomAD frequency: 0.00144  dbSNP: rs148000769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398482 SCV000339414 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000398482 SCV001728227 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000398482 SCV004124529 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing PEX11B: BP4, BP7

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