ClinVar Miner

Submissions for variant NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) (rs7252299)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837579 SCV000979435 benign not provided 2018-04-19 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.
Mendelics RCV000608518 SCV001140970 benign Weill-Marchesani syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608518 SCV000733934 benign Weill-Marchesani syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000608518 SCV000745747 benign Weill-Marchesani syndrome 1 2015-02-20 no assertion criteria provided clinical testing

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