ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.247del (p.Leu83fs) (rs281865061)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032005 SCV000054714 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 4F 2015-08-20 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789551 SCV000928907 uncertain significance Dejerine-Sottas disease no assertion criteria provided literature only

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