ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.7569A>G (p.Gln2523=)

gnomAD frequency: 0.00014  dbSNP: rs148494695
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) RCV000350693 SCV000337292 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000350693 SCV002381778 likely benign not provided 2024-03-10 criteria provided, single submitter clinical testing

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