ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2245C>T (p.Pro749Ser)

dbSNP: rs1664593626
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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 RCV001262563 SCV001440484 likely benign Marshall syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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