ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2103G>A (p.Gln701=)

gnomAD frequency: 0.00002  dbSNP: rs370972881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734842 SCV000863016 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000734842 SCV001072469 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141734 SCV003825122 uncertain significance Microcephaly 5, primary, autosomal recessive 2021-03-16 criteria provided, single submitter clinical testing

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