ClinVar Miner

Submissions for variant NM_015991.4(C1QA):c.525C>T (p.Ile175=)

gnomAD frequency: 0.00288  dbSNP: rs149050968
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972575 SCV001120296 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972575 SCV004123488 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing C1QA: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000972575 SCV005282003 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000972575 SCV001932944 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000972575 SCV001967245 likely benign not provided no assertion criteria provided clinical testing

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