ClinVar Miner

Submissions for variant NM_017946.3(FKBP14):c.48_50del (p.Leu17del) (rs564626031)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415956 SCV000493193 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Invitae RCV000528849 SCV000652311 benign Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 2017-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000610457 SCV000726761 likely benign not specified 2018-01-18 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.

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