ClinVar Miner

Submissions for variant NM_006371.4(CRTAP):c.732C>T (p.Leu244=) (rs149119710)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000290568 SCV000337726 likely benign not specified 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000290568 SCV000723344 likely benign not specified 2017-09-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000300584 SCV000443224 uncertain significance Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551070 SCV000641175 benign Osteogenesis imperfecta type 7 2017-12-30 criteria provided, single submitter clinical testing

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