ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.386A>T (p.Glu129Val)

dbSNP: rs1561831003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000766234 SCV000863783 likely pathogenic Heimler syndrome 2 2018-12-21 no assertion criteria provided clinical testing Allele was found together with pathogenic variant c.1992G>C [NC_000006.11: g.42934365C>G]

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