ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)

gnomAD frequency: 0.00111  dbSNP: rs141556170
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176927 SCV000228704 uncertain significance not provided 2015-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000176927 SCV001691188 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001507016 SCV001711943 uncertain significance Stickler syndrome, type 5 2021-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000176927 SCV001805291 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739559 SCV005345440 likely benign COL9A2-related disorder 2024-04-30 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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