ClinVar Miner

Submissions for variant NM_001173467.3(SP7):c.1272G>A (p.Glu424=)

gnomAD frequency: 0.00062  dbSNP: rs182820275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351342 SCV000334455 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000351342 SCV001045867 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000351342 SCV001796433 likely benign not provided 2020-11-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003640884 SCV004562177 likely benign Osteogenesis imperfecta type 12 2023-10-06 criteria provided, single submitter clinical testing

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