ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1576C>T (p.Leu526=)

gnomAD frequency: 0.87861  dbSNP: rs4344416
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 RCV001521842 SCV001731256 benign Infantile spasms 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718875 SCV005318327 benign not provided criteria provided, single submitter not provided

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