ClinVar Miner

Submissions for variant NM_006841.6(SLC38A3):c.686T>C (p.Ile229Thr)

gnomAD frequency: 0.00003  dbSNP: rs780109786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736230 SCV000864527 uncertain significance Short stature 2001-11-18 no assertion criteria provided case-control

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