ClinVar Miner

Submissions for variant NP_000521.1(MPZ):p.Asn116Ser

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000194444 SCV000243950 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2014-12-18 no assertion criteria provided literature only

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