ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2806+1G>A

gnomAD frequency: 0.00001  dbSNP: rs751900826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672043 SCV000797102 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2018-01-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568548 SCV005055273 likely pathogenic Heimler syndrome 2 2024-02-05 criteria provided, single submitter clinical testing

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