ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1483+31T>C

gnomAD frequency: 0.52842  dbSNP: rs2860178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001644566 SCV000604032 benign not provided 2019-10-22 criteria provided, single submitter clinical testing
GeneDx RCV001644566 SCV001860715 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730695 SCV001981390 benign Leprechaunism syndrome 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730696 SCV001981401 benign Rabson-Mendenhall syndrome 2021-08-19 criteria provided, single submitter clinical testing

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