ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.171G>C (p.Gly57=)

gnomAD frequency: 0.00004  dbSNP: rs750791932
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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) RCV000734103 SCV000862216 uncertain significance not provided 2018-07-04 criteria provided, single submitter clinical testing
Invitae RCV001424832 SCV001627435 likely benign Peroxisome biogenesis disorder 9B 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830637 SCV002077231 likely benign Rhizomelic chondrodysplasia punctata 2021-07-14 no assertion criteria provided clinical testing

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