ClinVar Miner

Submissions for variant NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) (rs184394424)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000059636 SCV000859325 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
OMIM RCV000023746 SCV000045037 pathogenic Trigonocephaly 2 2011-09-01 no assertion criteria provided literature only
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207399 SCV000259155 likely benign Irido-corneo-trabecular dysgenesis; Rieger syndrome 2013-01-01 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059636 SCV000091206 not provided not provided no assertion provided not provided

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