ClinVar Miner

Submissions for variant NM_012210.4(TRIM32):c.90G>A (p.Glu30=)

gnomAD frequency: 0.00001  dbSNP: rs534259071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000315580 SCV000344725 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001436656 SCV001639498 likely benign Bardet-Biedl syndrome 2024-12-24 criteria provided, single submitter clinical testing

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