ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.5C>G (p.Ala2Gly) (rs7508518)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173085 SCV000224169 benign not specified 2018-05-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173085 SCV000247622 benign not specified 2015-07-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261376 SCV000415592 benign Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318884 SCV000415593 benign Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375797 SCV000415594 benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000173085 SCV000539389 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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