ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) (rs886037779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000240712 SCV000264801 pathogenic Heimler syndrome 2 2015-10-01 criteria provided, single submitter research Newly identified
Counsyl RCV000675085 SCV000800593 uncertain significance Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-09-15 criteria provided, single submitter clinical testing

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