ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.644C>G (p.Pro215Arg)

gnomAD frequency: 0.00002  dbSNP: rs201983881
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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 RCV001401554 SCV001603381 likely benign Fibrous dysplasia of jaw 2023-10-30 criteria provided, single submitter clinical testing

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