ClinVar Miner

Submissions for variant NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)

dbSNP: rs2520162033
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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 RCV003234809 SCV003932692 likely pathogenic Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 2023-06-20 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. de novo Selected ACMG criteria: Likely pathogenic (II):PP3;PM5;PM2;PS2

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