ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.404C>T (p.Ser135Phe) (rs28939680)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007904 SCV000028109 pathogenic Charcot-Marie-Tooth disease axonal type 2F 2008-11-18 no assertion criteria provided literature only
OMIM RCV000007905 SCV000028110 pathogenic Distal hereditary motor neuronopathy type 2B 2008-11-18 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789332 SCV000928685 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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