ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5092G>A (p.Ala1698Thr)

dbSNP: rs1556338747
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624244 SCV000742749 uncertain significance Inborn genetic diseases 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected

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