ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu)

dbSNP: rs146599947
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335780 SCV001529014 uncertain significance Intellectual disability, autosomal recessive 18 2018-11-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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