ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) (rs10077543)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462842 SCV000546359 likely benign Charcot-Marie-Tooth disease type 4 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507530 SCV000605102 uncertain significance not specified 2016-09-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173158 SCV001336236 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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