ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.260-15dup

dbSNP: rs8192896
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000291796 SCV000332419 benign not specified 2015-06-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275100 SCV000474710 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299831 SCV000474711 uncertain significance Congenital bile acid synthesis defect 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001610772 SCV001840497 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Invitae RCV002059083 SCV002484003 benign Spastic paraplegia 2024-01-21 criteria provided, single submitter clinical testing

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