ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.139T>A (p.Phe47Ile)

gnomAD frequency: 0.00030  dbSNP: rs143159512
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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 RCV000680463 SCV000807838 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060857 SCV002435339 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
GeneDx RCV002060857 SCV002504223 likely benign not provided 2019-02-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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