ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)

gnomAD frequency: 0.00001  dbSNP: rs587778796
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000056114 SCV000267283 likely pathogenic Cholestanol storage disease 2016-03-18 criteria provided, single submitter reference population
Counsyl RCV000056114 SCV000800527 uncertain significance Cholestanol storage disease 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000056114 SCV000939588 pathogenic Cholestanol storage disease 2021-09-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000056114 SCV001162937 pathogenic Cholestanol storage disease criteria provided, single submitter clinical testing
GeneReviews RCV000056114 SCV000087192 pathologic Cholestanol storage disease 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.
Natera, Inc. RCV000056114 SCV001455782 pathogenic Cholestanol storage disease 2020-09-16 no assertion criteria provided clinical testing

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