ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2174-20T>C

gnomAD frequency: 0.16253  dbSNP: rs4915344
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081935 SCV000113870 benign not specified 2014-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000081935 SCV000167037 benign not specified 2013-12-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000081935 SCV000313164 benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000609754 SCV000744807 benign Microcephaly 5, primary, autosomal recessive 2017-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055215 SCV002484452 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000609754 SCV004172583 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002055215 SCV005285993 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000081935 SCV000192136 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000609754 SCV000733977 benign Microcephaly 5, primary, autosomal recessive no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081935 SCV001956152 benign not specified no assertion criteria provided clinical testing

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