ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.*2014C>T

gnomAD frequency: 0.00003  dbSNP: rs556567528
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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 RCV000397300 SCV000415294 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311077 SCV000415295 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357418 SCV000415296 likely benign Rabson-Mendenhall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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