ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) (rs78046647)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000177980 SCV000229947 likely benign not specified 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000767038 SCV000568779 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22995991, 15922184, 30753492, 33570564)
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680459 SCV000807834 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000767038 SCV001052276 likely benign not provided 2020-11-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000767038 SCV001143577 benign not provided 2019-07-12 criteria provided, single submitter clinical testing

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