ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.774C>T (p.Thr258=)

gnomAD frequency: 0.00029  dbSNP: rs199687287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652077 SCV000773945 likely benign Infantile spasms 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905768 SCV004723041 likely benign PIK3AP1-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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