ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.727C>T (p.Arg243Ter)

gnomAD frequency: 0.00001  dbSNP: rs1463609963
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526515 SCV001736936 pathogenic Microcephaly criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584918 SCV005074602 pathogenic not provided 2024-06-01 criteria provided, single submitter clinical testing ASPM: PVS1, PM2, PS4:Supporting

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