ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1481G>A (p.Trp494Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005043771 SCV005682507 likely pathogenic Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-01-12 criteria provided, single submitter clinical testing

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