ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter)

dbSNP: rs1188823925
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580110 SCV001809724 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580110 SCV001967354 pathogenic not provided no assertion criteria provided clinical testing

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