ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1612-16T>A

gnomAD frequency: 0.00003  dbSNP: rs530508572
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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 RCV000680472 SCV000807848 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060858 SCV002385152 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing

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