ClinVar Miner

Submissions for variant NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala)

gnomAD frequency: 0.43552  dbSNP: rs2241880
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180346 SCV000232759 benign not specified 2015-02-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707847 SCV005246071 benign not provided criteria provided, single submitter not provided
OMIM RCV000001189 SCV000021339 risk factor Inflammatory bowel disease 10, susceptibility to 2014-02-27 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003982820 SCV004796357 benign ATG16L1-related disorder 2019-10-17 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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