ClinVar Miner

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

dbSNP: rs72551323
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000373347 SCV000334436 benign not specified 2015-08-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512745 SCV000609024 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, 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 2021-12-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services,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.
GeneDx RCV000512745 SCV001803088 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
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
Clinical Genetics, Academic Medical Center RCV000373347 SCV001924907 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000512745 SCV002036938 likely benign not provided no assertion criteria provided clinical testing

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