ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1446+19C>T

gnomAD frequency: 0.00002  dbSNP: rs368415304
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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 RCV000680474 SCV000807850 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV002066996 SCV002424351 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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