ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)

gnomAD frequency: 0.00007  dbSNP: rs747029402
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680473 SCV000807849 uncertain significance Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998581 SCV001154720 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000998581 SCV002117654 benign not provided 2024-01-03 criteria provided, single submitter clinical testing

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