ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2730G>A (p.Thr910=)

gnomAD frequency: 0.00005  dbSNP: rs774721609
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254254 SCV000303466 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000666411 SCV000790699 likely benign Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-04-05 criteria provided, single submitter clinical testing
Invitae RCV001854953 SCV002168549 likely benign Peroxisome biogenesis disorder 2023-12-11 criteria provided, single submitter clinical testing

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