ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.653-7del

gnomAD frequency: 0.01724  dbSNP: rs766817873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000965418 SCV001112685 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819062 SCV002066019 benign not specified 2021-02-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503031 SCV002807528 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 2021-09-01 criteria provided, single submitter clinical testing

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