ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.242A>G (p.His81Arg) (rs121913594)

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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 RCV000015242 SCV000255797 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518134 SCV000614104 pathogenic not provided 2015-05-28 criteria provided, single submitter clinical testing
OMIM RCV000015242 SCV000035501 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 1997-01-01 no assertion criteria provided literature only
GeneReviews RCV000015242 SCV000055675 pathologic Charcot-Marie-Tooth disease, demyelinating, type 1b 2012-10-18 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789479 SCV000928835 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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