ClinVar Miner

Submissions for variant NM_017946.3(FKBP14):c.165C>T (p.Tyr55=) (rs17150692)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535304 SCV000652306 benign Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000438523 SCV000525645 benign not specified 2016-11-07 no assertion criteria provided 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.

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