ClinVar Miner

Submissions for variant NM_021939.4(FKBP10):c.492G>A (p.Pro164=)

gnomAD frequency: 0.00001  dbSNP: rs529337443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV000844869 SCV000986677 benign Osteogenesis imperfecta type 11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000913221 SCV001058364 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing

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