ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2218A>T (p.Ile740Leu)

gnomAD frequency: 0.00779  dbSNP: rs35203521
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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 RCV000145095 SCV000192138 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710625 SCV000840871 benign not provided 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710625 SCV001120083 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000710625 SCV001906665 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505122 SCV002809495 likely benign Microcephaly 5, primary, autosomal recessive 2022-01-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002505122 SCV004178731 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710625 SCV005285992 benign not provided criteria provided, single submitter not provided

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