ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003131765 SCV003812275 likely pathogenic not provided 2022-09-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047431 SCV005682513 likely pathogenic Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-03-06 criteria provided, single submitter clinical testing

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