ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])

dbSNP: rs78227997
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000600681 SCV000745078 likely benign Knobloch syndrome 2015-09-21 criteria provided, single submitter clinical testing
Mendelics RCV000600681 SCV001141311 benign Knobloch syndrome 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000600681 SCV000734093 benign Knobloch syndrome no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573345 SCV001799083 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579930 SCV001809082 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579930 SCV001924787 benign not specified no assertion criteria provided clinical testing

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