ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.1184G>A (p.Arg395His)

gnomAD frequency: 0.00004  dbSNP: rs369792296
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002103148 SCV002381723 likely benign not provided 2023-11-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277016 SCV002565032 uncertain significance Osteogenesis imperfecta 2019-04-01 criteria provided, single submitter clinical testing

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