ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2970G>A (p.Pro990=)

gnomAD frequency: 0.00085  dbSNP: rs41304772
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000398686 SCV000332902 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000398686 SCV001070142 benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820809 SCV002066313 likely benign not specified 2017-12-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000398686 SCV002033976 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000398686 SCV002035841 likely benign not provided no assertion criteria provided clinical testing

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