ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) (rs146230559)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000268529 SCV000261506 likely benign not provided 2019-02-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000268529 SCV000345517 uncertain significance not provided 2016-09-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206356 SCV000375034 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000985 SCV001158088 likely benign Charcot-Marie-Tooth disease, type 4B2 2018-10-08 criteria provided, single submitter clinical testing

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