ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) (rs541606391)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234485 SCV000290596 benign Charcot-Marie-Tooth disease axonal type 2C 2016-03-15 criteria provided, single submitter clinical testing
GeneDx RCV000235727 SCV000293259 likely benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000235727 SCV000605450 uncertain significance not specified 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV000860565 SCV001000651 benign not provided 2019-01-30 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174138 SCV001337259 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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