ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) (rs199691576)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732140 SCV000860050 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV001080340 SCV001067569 likely benign Cholestanol storage disease 2020-11-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001080340 SCV001303399 uncertain significance Cholestanol storage disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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