ClinVar Miner

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

gnomAD frequency: 0.00233  dbSNP: rs78046647
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000767038 SCV001052276 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000767038 SCV001143577 benign not provided 2019-07-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000680459 SCV002566638 uncertain significance Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000767038 SCV004042439 benign not provided 2023-09-01 criteria provided, single submitter clinical testing COL11A1: PP3, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004537455 SCV004731606 likely benign COL11A1-related disorder 2021-02-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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