ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.2379C>T (p.Thr793=)

gnomAD frequency: 0.00030  dbSNP: rs201824606
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534443 SCV000655002 benign Infantile spasms 2025-01-11 criteria provided, single submitter clinical testing

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