ClinVar Miner

Submissions for variant NM_022082.4(SLC17A9):c.250G>A (p.Gly84Arg)

gnomAD frequency: 0.00194  dbSNP: rs187226528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889862 SCV001033572 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957928 SCV004770869 benign SLC17A9-related disorder 2020-05-06 no assertion criteria provided 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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