ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.1613G>T (p.Gly538Val)

dbSNP: rs1114167359
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000490890 SCV000503568 likely pathogenic Knobloch syndrome 2017-02-03 criteria provided, single submitter clinical testing

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