ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4373T>C (p.Ile1458Thr)

gnomAD frequency: 0.00001  dbSNP: rs1651478594
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262339 SCV001440163 uncertain significance Marshall syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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