ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.447G>A (p.Thr149=)

gnomAD frequency: 0.00002  dbSNP: rs759220912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059447 SCV001224071 likely benign Peroxisome biogenesis disorder, complementation group 7 2023-11-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691327 SCV005186747 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001832533 SCV002094128 uncertain significance Zellweger spectrum disorders 2021-02-01 no assertion criteria provided clinical testing

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