ClinVar Miner

Submissions for variant NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281623 SCV001468953 likely pathogenic not provided criteria provided, single submitter clinical testing
OMIM RCV001732109 SCV001984763 pathogenic Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 2021-10-27 no assertion criteria provided literature only

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