ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu)

dbSNP: rs1559384559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735116 SCV000863316 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477734 SCV002804068 uncertain significance Cholestanol storage disease 2021-12-22 criteria provided, single submitter clinical testing

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