ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.*4374G>A

gnomAD frequency: 0.00010  dbSNP: rs886054660
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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 RCV000376920 SCV000415156 uncertain significance Rabson-Mendenhall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266263 SCV000415157 uncertain significance Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323615 SCV000415158 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing

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