ClinVar Miner

Submissions for variant NM_001042413.2(GLIS3):c.2340G>A (p.Arg780=)

gnomAD frequency: 0.00086  dbSNP: rs147473975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971553 SCV001119208 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503073 SCV002798601 likely benign Neonatal diabetes mellitus with congenital hypothyroidism 2021-11-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151249 SCV003839563 likely benign not specified 2022-10-18 no assertion criteria provided clinical testing

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