ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.123-19dup

dbSNP: rs8192895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378188 SCV000474718 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290793 SCV000474719 uncertain significance Congenital bile acid synthesis defect 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860845 SCV001001010 benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848721 SCV002104546 likely benign Hereditary spastic paraplegia 2020-12-29 criteria provided, single submitter clinical testing

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