ClinVar Miner

Submissions for variant NM_001039141.3(TRIOBP):c.1132C>T (p.Pro378Ser)

gnomAD frequency: 0.00087  dbSNP: rs183024099
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595759 SCV001828912 benign not provided 2019-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001595759 SCV002469999 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001595759 SCV004147851 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TRIOBP: BP4, BS2

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