ClinVar Miner

Submissions for variant NM_018136.5(ASPM):c.4209T>C (p.His1403=)

gnomAD frequency: 0.00002  dbSNP: rs776523167
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
CeGaT Center for Human Genetics Tuebingen RCV000658536 SCV000780311 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000658536 SCV004534462 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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