ClinVar Miner

Submissions for variant NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp)

gnomAD frequency: 0.26559  dbSNP: rs13266634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000001055 SCV000021205 risk factor Diabetes mellitus type 2, susceptibility to 2007-06-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974786 SCV004799625 benign SLC30A8-related disorder 2019-10-21 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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