ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.957T>C (p.Arg319=)

dbSNP: rs886063073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000341489 SCV000474700 uncertain significance Congenital bile acid synthesis defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379755 SCV000474701 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588618 SCV004263946 likely benign Spastic paraplegia 2024-05-21 criteria provided, single submitter clinical testing

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