ClinVar Miner

Submissions for variant NM_017777.3(MKS1):c.80+2T>C (rs386834052)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665702 SCV000789865 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-02-24 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000022413 SCV000082448 probable-pathogenic Meckel syndrome type 1 no assertion criteria provided not provided Converted during submission to Likely pathogenic.
OMIM RCV000022413 SCV000043098 pathogenic Meckel syndrome type 1 2006-02-01 no assertion criteria provided literature only

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