ClinVar Miner

Submissions for variant NM_031443.4(CCM2):c.48A>T (p.Pro16=)

gnomAD frequency: 0.00003  dbSNP: rs142320735
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000366 SCV001157112 likely benign Cerebral cavernous malformation 2 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001000366 SCV001605240 likely benign Cerebral cavernous malformation 2 2019-12-03 criteria provided, single submitter clinical testing

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