ClinVar Miner

Submissions for variant NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val)

dbSNP: rs724159958
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000149576 SCV000196552 pathogenic Charcot-Marie-Tooth disease axonal type 2S 2014-11-06 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000192259 SCV000929358 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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