ClinVar Miner

Submissions for variant NM_005544.3(IRS1):c.2358T>C (p.His786=)

gnomAD frequency: 0.00443  dbSNP: rs137866175
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954391 SCV001101021 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505427 SCV002804420 likely benign Type 2 diabetes mellitus 2022-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954391 SCV004151522 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing IRS1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954391 SCV005242747 benign not provided criteria provided, single submitter not provided

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