ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.776+2T>C

gnomAD frequency: 0.00001  dbSNP: rs1335685844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670741 SCV000795635 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2017-11-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472130 SCV004201401 likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger) 2023-08-09 criteria provided, single submitter clinical testing

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