ClinVar Miner

Submissions for variant NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)

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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291368 SCV002583637 likely pathogenic Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 2022-08-18 criteria provided, single submitter clinical testing PM2, PM5, PM1

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