ClinVar Miner

Submissions for variant NM_001737.5(C9):c.133A>T (p.Met45Leu)

gnomAD frequency: 0.00183  dbSNP: rs41271047
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624970 SCV000743219 likely benign Complement component 9 deficiency 2017-06-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624970 SCV000744334 likely benign Complement component 9 deficiency 2016-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000890354 SCV001034094 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890354 SCV004160948 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing C9: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003928038 SCV004739202 likely benign C9-related disorder 2023-03-08 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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