ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr)

gnomAD frequency: 0.00980  dbSNP: rs144147445
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243313 SCV000314659 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510214 SCV001717199 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000243313 SCV002067898 benign not specified 2018-08-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001510214 SCV004146733 benign not provided 2024-05-01 criteria provided, single submitter clinical testing COL18A1: BS1, BS2; SLC19A1: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001510214 SCV001799198 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001510214 SCV001968775 likely benign not provided no assertion criteria provided clinical testing

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