ClinVar Miner

Submissions for variant NM_017777.3(MKS1):c.1024+1G>A (rs199874059)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668139 SCV000792690 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-07-07 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000022414 SCV000082434 probable-pathogenic Meckel syndrome type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000022414 SCV000043099 pathogenic Meckel syndrome type 1 2007-06-01 no assertion criteria provided literature only

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