ClinVar Miner

Submissions for variant NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) (rs117843968)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178787 SCV000230942 likely benign not specified 2015-03-30 criteria provided, single submitter clinical testing
Invitae RCV000528570 SCV000627794 likely benign Deficiency of alpha-mannosidase 2017-07-17 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000528570 SCV000782744 uncertain significance Deficiency of alpha-mannosidase 2017-09-21 criteria provided, single submitter clinical testing

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