ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) (rs148157556)

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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 RCV000180227 SCV000232624 benign not specified 2014-11-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303117 SCV000373774 uncertain significance Spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000557136 SCV000642296 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 RCV000180227 SCV000308708 benign not specified criteria provided, single submitter clinical testing

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