ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.855G>A (p.Ala285=)

gnomAD frequency: 0.00007  dbSNP: rs561083858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277850 SCV002565040 uncertain significance Osteogenesis imperfecta 2020-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003096243 SCV003473787 likely benign not provided 2022-04-17 criteria provided, single submitter clinical testing

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