ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.306del (p.Asp104fs) (rs281865125)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001705641 SCV001934247 likely pathogenic Charcot-Marie-Tooth disease dominant intermediate d 2020-10-16 criteria provided, single submitter clinical testing
GeneReviews RCV000033916 SCV000057832 pathogenic Charcot-Marie-Tooth disease, demyelinating, type 1b 2015-03-26 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000033916 SCV000607314 not provided Charcot-Marie-Tooth disease, demyelinating, type 1b no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Inherited Neuropathy Consortium RCV000789496 SCV000928852 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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