ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.873C>T (p.His291=)

gnomAD frequency: 0.00516  dbSNP: rs115117459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000249685 SCV000310484 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000887736 SCV001031316 benign Peroxisome biogenesis disorder, complementation group K 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503941 SCV002800599 likely benign Peroxisome biogenesis disorder 13A (Zellweger) 2022-01-17 criteria provided, single submitter clinical testing

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