ClinVar Miner

Submissions for variant NM_016030.6(TRAPPC12):c.627C>T (p.Phe209=)

gnomAD frequency: 0.00800  dbSNP: rs140551015
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002199300 SCV002490886 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002199300 SCV002543995 benign not provided 2024-04-01 criteria provided, single submitter clinical testing TRAPPC12: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002199300 SCV005283790 benign not provided criteria provided, single submitter not provided

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