ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) (rs281865130)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994155 SCV001147493 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
GeneReviews RCV000033923 SCV000057840 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789688 SCV000929063 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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