ClinVar Miner

Submissions for variant NM_138422.4(ADAT3):c.548C>T (p.Thr183Met)

gnomAD frequency: 0.01214  dbSNP: rs139117131
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488362 SCV000575136 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000488362 SCV001116450 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925418 SCV004741909 benign ADAT3-related disorder 2019-05-28 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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