ClinVar Miner

Submissions for variant NM_145868.2(ANXA11):c.949+8C>T

gnomAD frequency: 0.00011  dbSNP: rs201628285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002184246 SCV002489459 likely benign not provided 2024-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003933665 SCV004750070 likely benign ANXA11-related disorder 2023-03-15 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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