ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) (rs12849161)

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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 RCV000147491 SCV000194927 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000205475 SCV000259978 benign Spastic paraplegia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717648 SCV000848502 benign History of neurodevelopmental disorder 2016-08-29 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneReviews RCV000020648 SCV000041175 benign Allan-Herndon-Dudley syndrome 2010-03-09 no assertion criteria provided curation Converted during submission to Benign.

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