ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529560 SCV000642314 likely benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2017-11-06 criteria provided, single submitter clinical testing

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