ClinVar Miner

Submissions for variant NM_001235.5(SERPINH1):c.843T>C (p.Leu281=)

gnomAD frequency: 0.00001  dbSNP: rs544719966
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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 RCV002277845 SCV002565030 uncertain significance Osteogenesis imperfecta 2020-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003698898 SCV004474554 likely benign not provided 2023-11-03 criteria provided, single submitter clinical testing

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