ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.3960C>T (p.Leu1320=)

gnomAD frequency: 0.00013  dbSNP: rs148964635
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145125 SCV000192170 likely benign not specified 2019-04-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710632 SCV000840879 likely benign not provided 2018-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710632 SCV001051015 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710632 SCV001335216 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ASPM: BP4, BP7
GeneDx RCV000710632 SCV001785825 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453107 SCV004178688 benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710632 SCV005260981 likely benign not provided criteria provided, single submitter not provided

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