ClinVar Miner

Submissions for variant NM_001077182.3(FSCN2):c.72del (p.Thr25fs) (rs376633374)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000132615 SCV001069735 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000003079 SCV000023237 pathogenic Retinitis pigmentosa 30 2008-09-01 no assertion criteria provided literature only
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132615 SCV000172566 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144473 SCV000189608 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing
OMIM RCV000412604 SCV000490287 pathogenic Macular degeneration 2008-09-01 no assertion criteria provided literature only

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