ClinVar Miner

Submissions for variant NM_177965.4(CFAP418):c.130C>T (p.Gln44Ter) (rs751922029)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001000091 SCV000930638 likely pathogenic Bardet-Biedl syndrome 21 criteria provided, single submitter clinical testing This variant g.5175C>T is found to be compound heterozygous with another variant g.10545del in C8orf37 gene. These variants are predicted to be disease causing by MutationTaster.

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