ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.*2149C>T

gnomAD frequency: 0.00052  dbSNP: rs886054670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378717 SCV000415285 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284190 SCV000415286 uncertain significance Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339266 SCV000415287 uncertain significance Rabson-Mendenhall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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