ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.513T>C (p.Asn171=)

gnomAD frequency: 0.00006  dbSNP: rs375149081
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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 RCV001442344 SCV001645293 likely benign Fibrous dysplasia of jaw 2023-03-04 criteria provided, single submitter clinical testing

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