ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1238G>T (p.Gly413Val)

dbSNP: rs1554127531
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672797 SCV000797940 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2018-02-15 criteria provided, single submitter clinical testing
OMIM RCV001268931 SCV001448181 pathogenic Heimler syndrome 2 2020-11-25 no assertion criteria provided literature only

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