ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.358G>A (p.Val120Ile)

gnomAD frequency: 0.13068  dbSNP: rs11552377
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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 RCV000250689 SCV000314791 benign not specified 2018-04-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000625100 SCV000602928 benign Cerebral cavernous malformation 2 2023-11-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625100 SCV000743775 benign Cerebral cavernous malformation 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625100 SCV000745179 benign Cerebral cavernous malformation 2 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711048 SCV000841375 benign not provided 2017-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625100 SCV001733101 benign Cerebral cavernous malformation 2 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000711048 SCV001837976 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28000143, 20419355, 23485406)
Clinical Genetics, Academic Medical Center RCV000250689 SCV001920449 benign not specified no assertion criteria provided clinical testing

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