ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.114C>T (p.His38=)

gnomAD frequency: 0.00001  dbSNP: rs761012752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470641 SCV001674738 likely benign Bardet-Biedl syndrome 2024-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005050381 SCV005682456 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004749699 SCV005363539 likely benign TRIM32-related disorder 2020-12-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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