ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.107-12541A>G

gnomAD frequency: 0.00090  dbSNP: rs200354859
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
Invitae RCV001514869 SCV001722823 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001514869 SCV004146713 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing COL18A1: BP4, BP7

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