ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.890G>A (p.Arg297His)

gnomAD frequency: 0.00001  dbSNP: rs780086745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502123 SCV000597070 uncertain significance not specified 2016-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750801 SCV004531979 benign Spastic paraplegia 2022-11-09 criteria provided, single submitter clinical testing

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