ClinVar Miner

Submissions for variant NM_001318510.2(ACSL4):c.1698-10G>A

gnomAD frequency: 0.00585  dbSNP: rs193072191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499550 SCV000593017 likely benign not specified 2016-12-17 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000585763 SCV000693694 uncertain significance Non-syndromic X-linked intellectual disability 2011-08-31 criteria provided, single submitter clinical testing
Invitae RCV000873975 SCV001016078 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932804 SCV004748903 benign ACSL4-related condition 2019-06-11 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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