ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518134 SCV000614104 pathogenic not provided 2015-05-28 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Assessment of experimental evidence suggests this variant results in abnormal protein function. Segregates with disease in multiple families
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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