ClinVar Miner

Submissions for variant NM_001039348.3(EFEMP1):c.*6del

dbSNP: rs200536754
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000174268 SCV000221692 likely benign not specified 2016-09-28 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000174268 SCV000225544 benign not specified 2014-06-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348125 SCV000431291 benign Doyne honeycomb retinal dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001706108 SCV001865134 benign not provided 2018-11-11 criteria provided, single submitter clinical testing

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