ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) (rs988590959)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529560 SCV000642314 likely benign not provided 2018-06-13 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174197 SCV001337323 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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