ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.407A>G (p.Asn136Ser)

gnomAD frequency: 0.00001  dbSNP: rs776400082
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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 RCV000514714 SCV000610458 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing

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