ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) (rs76707931)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179403 SCV000231648 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292195 SCV000373765 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547375 SCV000642367 benign Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S 2018-01-11 criteria provided, single submitter clinical testing
PreventionGenetics RCV000179403 SCV000308733 benign not specified criteria provided, single submitter clinical testing

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