ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.157G>A (p.Val53Ile)

gnomAD frequency: 0.06147  dbSNP: rs2107732
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248409 SCV000314785 benign not specified 2018-01-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000625099 SCV000602927 benign Cerebral cavernous malformation 2 2023-11-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625099 SCV000743774 benign Cerebral cavernous malformation 2 2016-07-12 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625099 SCV000745178 benign Cerebral cavernous malformation 2 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625099 SCV001718593 benign Cerebral cavernous malformation 2 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001706363 SCV001888056 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000248409 SCV001925829 benign not specified no assertion criteria provided clinical testing

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