ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1806G>A (p.Thr602=)

gnomAD frequency: 0.00073  dbSNP: rs147512410
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 RCV000553363 SCV000654992 benign Infantile spasms 2023-12-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718739 SCV005318323 benign not provided criteria provided, single submitter not provided

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