ClinVar Miner

Submissions for variant NM_001235.4(SERPINH1):c.721+9T>C (rs138193444)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177129 SCV000228956 benign not specified 2015-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000177129 SCV000722462 likely benign not specified 2017-08-31 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 RCV000329748 SCV000374095 uncertain significance Osteogenesis Imperfecta, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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