ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.110A>G (p.Asn37Ser) (rs587779734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000114211 SCV000147764 uncertain significance Meckel-Gruber syndrome 2013-08-02 criteria provided, single submitter clinical testing
Counsyl RCV000671334 SCV000796297 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-12-11 criteria provided, single submitter clinical testing

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