ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.1881C>G (p.Leu627=)

gnomAD frequency: 0.00004  dbSNP: rs753071212
Minimum review status: Collection method:
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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 RCV002091210 SCV002382744 likely benign Infantile spasms 2021-03-20 criteria provided, single submitter clinical testing

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