ClinVar Miner

Submissions for variant NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del)

dbSNP: rs761585795
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990055 SCV001140824 benign Camptomelic dysplasia 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990055 SCV002298419 likely benign Camptomelic dysplasia 2024-01-29 criteria provided, single submitter clinical testing

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