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: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059447 SCV001224071 likely benign Peroxisome biogenesis disorder, complementation group 7 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832533 SCV002094128 uncertain significance Zellweger spectrum disorders 2021-02-01 no assertion criteria provided clinical testing

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