ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.502A>C (p.Arg168=)

gnomAD frequency: 0.00011  dbSNP: rs147527791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898685 SCV001042907 likely benign not provided 2023-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000898685 SCV001767261 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454938 SCV004178783 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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