ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1089T>C (p.Ala363=)

gnomAD frequency: 0.00089  dbSNP: rs138192611
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629256 SCV000750191 benign Fibrous dysplasia of jaw 2024-01-16 criteria provided, single submitter clinical testing

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