ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) (rs139406076)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762588 SCV000892921 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000124487 SCV000167920 benign not specified 2013-05-28 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 RCV000261885 SCV000478523 uncertain significance Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460871 SCV000559969 likely benign Ehlers-Danlos syndrome, classic type 2017-12-26 criteria provided, single submitter clinical testing

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