ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.477T>C (p.Pro159=)

gnomAD frequency: 0.00001  dbSNP: rs1189514551
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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 RCV001478699 SCV001682975 likely benign Fibrous dysplasia of jaw 2021-02-18 criteria provided, single submitter clinical testing

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