ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.915G>A (p.Thr305=)

gnomAD frequency: 0.22659  dbSNP: rs2289367
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242966 SCV000314795 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000625101 SCV000602926 benign Cerebral cavernous malformation 2 2023-11-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625101 SCV000743776 benign Cerebral cavernous malformation 2 2014-10-10 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625101 SCV000745180 benign Cerebral cavernous malformation 2 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711050 SCV000841377 benign not provided 2017-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000711050 SCV001844180 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27708576)
Labcorp Genetics (formerly Invitae), Labcorp RCV000625101 SCV002439380 benign Cerebral cavernous malformation 2 2024-01-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000242966 SCV001922155 benign not specified no assertion criteria provided clinical testing

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