ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu)

gnomAD frequency: 0.01313  dbSNP: rs61736805
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515030 SCV000610100 likely benign not provided 2017-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000515030 SCV001104968 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000515030 SCV005207598 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000515030 SCV001797378 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000515030 SCV001976235 likely benign not provided no assertion criteria provided clinical testing

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