ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.1848G>A (p.Met616Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004731667 SCV005326501 uncertain significance Hernia, anterior diaphragmatic 2024-09-23 criteria provided, single submitter clinical testing ACMG: PM2_Supporting, PP1_Moderate, PP3_Moderate

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