ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.5206C>G (p.Gln1736Glu)

gnomAD frequency: 0.00788  dbSNP: rs62623455
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145140 SCV000192188 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710636 SCV000840883 benign not provided 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710636 SCV001120082 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492449 SCV002802775 likely benign Microcephaly 5, primary, autosomal recessive 2021-09-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002492449 SCV004178645 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710636 SCV005285976 benign not provided criteria provided, single submitter not provided

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