ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.281dup (p.Arg95fs) (rs80338763)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201059 SCV000255806 pathogenic Charcot-Marie-Tooth disease, type IA 2015-08-12 criteria provided, single submitter clinical testing
OMIM RCV000008952 SCV000029162 pathogenic Hereditary liability to pressure palsies 1997-02-01 no assertion criteria provided literature only
GeneReviews RCV000008952 SCV000040592 pathologic Hereditary liability to pressure palsies 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000033899 SCV000057813 pathologic Charcot-Marie-Tooth disease type 2E 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000008952 SCV000928954 uncertain significance Hereditary liability to pressure palsies no assertion criteria provided literature only

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