ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu)

dbSNP: rs146700420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725860 SCV000340026 uncertain significance not provided 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000725860 SCV000621678 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000725860 SCV001044880 likely benign not provided 2024-10-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957459 SCV004769591 likely benign COL9A1-related disorder 2022-03-02 no assertion criteria provided 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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