ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.66A>C (p.Ala22=)

gnomAD frequency: 0.00001  dbSNP: rs572094828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936253 SCV001082018 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2023-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832133 SCV002075542 likely benign Zellweger spectrum disorders 2020-10-27 no assertion criteria provided clinical testing

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