ClinVar Miner

Submissions for variant NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) (rs72551323)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000373347 SCV000334436 benign not specified 2015-08-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512745 SCV000609024 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000611602 SCV000744175 likely benign Cholestanol storage disease 2016-03-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000512745 SCV000843001 benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Invitae RCV000611602 SCV001122558 benign Cholestanol storage disease 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000611602 SCV001298665 likely benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000611602 SCV000734172 benign Cholestanol storage disease no assertion criteria provided clinical testing
Natera, Inc. RCV000611602 SCV001462727 likely benign Cholestanol storage disease 2020-06-12 no assertion criteria provided clinical testing

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