ClinVar Miner

Submissions for variant NM_017777.3(MKS1):c.515+1G>A (rs201933838)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671081 SCV000796023 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-11-30 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000050037 SCV000746374 pathogenic Meckel syndrome type 1 2017-12-03 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050037 SCV000082446 probable-pathogenic Meckel syndrome type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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