ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.112+15C>A

gnomAD frequency: 0.00001  dbSNP: rs1028590508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002110570 SCV002438712 likely benign Peroxisome biogenesis disorder, complementation group 7 2022-09-02 criteria provided, single submitter clinical testing

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