ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.272A>C (p.Asp91Ala)

dbSNP: rs1404195978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514746 SCV000610151 uncertain significance not provided 2017-04-27 criteria provided, single submitter clinical testing

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