ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.240G>T (p.Trp80Cys)

dbSNP: rs1114167302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Universitätsklinikum Salzburg, Universitätskinderklinik RCV000491898 SCV000282233 likely pathogenic Familial aplasia of the vermis 2016-06-19 criteria provided, single submitter clinical testing

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