ClinVar Miner

Submissions for variant NM_006521.6(TFE3):c.1694G>A (p.Arg565His)

gnomAD frequency: 0.00002  dbSNP: rs782782345
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803670 SCV002049940 uncertain significance Renal cell carcinoma, Xp11-associated 2021-11-30 criteria provided, single submitter clinical testing

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