ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.765G>A (p.Leu255=)

gnomAD frequency: 0.00035  dbSNP: rs140133667
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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) RCV000596202 SCV000702949 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing
Invitae RCV001079384 SCV001031475 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272158 SCV001453853 likely benign Zellweger spectrum disorders 2020-05-29 no assertion criteria provided clinical testing

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