ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.433del (p.Leu145fs)

dbSNP: rs1567698872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712774 SCV000843300 pathogenic not provided 2018-06-15 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173912 SCV001337029 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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