ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu)

gnomAD frequency: 0.00004  dbSNP: rs373734529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001921525 SCV002200533 likely benign not provided 2024-09-24 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989734 SCV004807613 likely benign Stickler syndrome type 2 2024-03-29 criteria provided, single submitter clinical testing
GeneDx RCV001921525 SCV005081357 uncertain significance not provided 2024-03-20 criteria provided, single submitter clinical testing Observed de novo in a fetus with cardiac defect in published literature (PMID: 31949757); 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: 31949757)

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