ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.295C>A (p.Leu99Met) (rs121909113)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007913 SCV000028118 likely pathogenic Distal hereditary motor neuronopathy type 2B 2010-12-30 no assertion criteria provided literature only

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