ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)

gnomAD frequency: 0.00001  dbSNP: rs121913148
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002496377 SCV002805291 likely pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 2021-08-23 criteria provided, single submitter clinical testing
OMIM RCV000015812 SCV000036079 pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans 1991-03-15 no assertion criteria provided literature only

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