ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.777G>A (p.Pro259=) (rs142261202)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000304687 SCV000366406 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000304687 SCV001005463 benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173802 SCV001336916 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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