ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.858T>C (p.Val286=)

gnomAD frequency: 0.00001  dbSNP: rs762342489
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817030 SCV002072002 likely benign not specified 2021-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002064808 SCV002448321 likely benign Bardet-Biedl syndrome 2023-11-18 criteria provided, single submitter clinical testing

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