ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7635A>G (p.Lys2545=)

gnomAD frequency: 0.00005  dbSNP: rs753881432
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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 RCV000921523 SCV001066927 likely benign not provided 2023-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000921523 SCV001782238 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454954 SCV004177599 likely benign Microcephaly 5, primary, autosomal recessive 2023-04-11 criteria provided, single submitter clinical testing

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