ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2589A>C (p.Thr863=)

gnomAD frequency: 0.00001  dbSNP: rs1398934546
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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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 RCV000659341 SCV000781152 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002534315 SCV002930981 likely benign not provided 2022-04-08 criteria provided, single submitter clinical testing

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