ClinVar Miner

Submissions for variant NM_001136035.4(TRMT1):c.1177-8G>A

gnomAD frequency: 0.00338  dbSNP: rs77560275
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000903814 SCV001048298 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000903814 SCV005042150 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TRMT1: BP4, BS1

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