ClinVar Miner

Submissions for variant NM_001368882.1(COL13A1):c.514-4del

dbSNP: rs35268667
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001582447 SCV001821751 benign Congenital myasthenic syndrome 19 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070447 SCV002482579 benign not provided 2025-02-03 criteria provided, single submitter clinical testing

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