ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.1912+5A>C (rs2248822)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603699 SCV000734637 benign Charcot-Marie-Tooth disease type 2P no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263725 SCV000477229 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing

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