ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.4035A>G (p.Lys1345=)

gnomAD frequency: 0.00001  dbSNP: rs537034419
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175219 SCV000226664 uncertain significance not provided 2015-02-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000175219 SCV005762329 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing

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