ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.312A>G (p.Pro104=)

gnomAD frequency: 0.00002  dbSNP: rs1242038507
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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 RCV001369681 SCV001566128 likely benign Cowden syndrome 2023-10-12 criteria provided, single submitter clinical testing

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