ClinVar Miner

Submissions for variant NM_001212.4(C1QBP):c.700-8C>A

gnomAD frequency: 0.00451  dbSNP: rs185497470
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883301 SCV001026597 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000883301 SCV002498227 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing C1QBP: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000883301 SCV005254838 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003920588 SCV004728602 benign C1QBP-related disorder 2020-03-16 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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