ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.483T>C (p.Ser161=)

gnomAD frequency: 0.00001  dbSNP: rs367754244
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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 RCV000812601 SCV000952919 likely benign Cowden syndrome 2024-02-20 criteria provided, single submitter clinical testing

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