ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) (rs121913599)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517209 SCV000614109 pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing
GeneReviews RCV000192587 SCV000243904 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
OMIM RCV000015250 SCV000035509 pathogenic Roussy-Lévy syndrome 1999-11-01 no assertion criteria provided literature only

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