ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del)

dbSNP: rs573567814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360949 SCV000344577 benign not specified 2017-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000860190 SCV000729942 benign not provided 2018-06-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765677 SCV001000159 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000860190 SCV001893030 benign not provided 2015-12-21 flagged submission clinical testing

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