ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.643C>A (p.Pro215Thr)

gnomAD frequency: 0.00057  dbSNP: rs139934973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970104 SCV001117664 likely benign Fibrous dysplasia of jaw 2023-12-07 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000970104 SCV001984261 likely benign Fibrous dysplasia of jaw 2020-03-03 criteria provided, single submitter clinical testing

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