ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2406del (p.Phe802fs)

dbSNP: rs1554126965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003472051 SCV004201593 likely pathogenic Heimler syndrome 2 2022-12-28 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656323 SCV000778298 pathogenic not provided 2018-01-03 no assertion criteria provided clinical testing

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