ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.*498_*499insTT

gnomAD frequency: 0.00598  dbSNP: rs71775166
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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 RCV000300961 SCV000415375 likely benign Rabson-Mendenhall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354601 SCV000415376 likely benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395372 SCV000415377 likely benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing

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