ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.2214G>T (p.Val738=)

gnomAD frequency: 0.00001  dbSNP: rs752844654
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108188 SCV002394117 likely benign Infantile spasms 2021-04-25 criteria provided, single submitter clinical testing

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