ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.2027-13del

dbSNP: rs773675080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001616184 SCV001838980 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001616184 SCV002455476 likely benign not provided 2023-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446849 SCV004172584 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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