ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.362A>G (p.His121Arg) (rs1567698985)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712772 SCV000843298 uncertain significance not provided 2018-02-16 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000844937 SCV000986755 not provided Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 04/12/2017 by GTR ID MNG Laboratories. 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.

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