ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4677A>G (p.Glu1559=)

gnomAD frequency: 0.00001  dbSNP: rs202048103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545509 SCV001764851 likely benign not provided 2020-02-21 criteria provided, single submitter clinical testing
Invitae RCV001545509 SCV004538248 benign not provided 2023-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541989 SCV004775552 likely benign COL11A1-related disorder 2020-02-19 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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