ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1412T>A (p.Ile471Asn)

gnomAD frequency: 0.00062  dbSNP: rs145525421
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000652075 SCV000773943 likely benign Infantile spasms 2023-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705760 SCV005227092 likely benign not provided criteria provided, single submitter not provided

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