ClinVar Miner

Submissions for variant NM_144966.5(FREM1):c.2169+11A>C (rs377670533)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513941 SCV000609912 likely benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299990 SCV000479102 uncertain significance Marles Greenberg Persaud syndrome 2016-06-14 criteria provided, single submitter clinical testing

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