ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1747-9C>T

gnomAD frequency: 0.00046  dbSNP: rs201779641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000235538 SCV000294322 benign Cowden syndrome 2024-10-30 criteria provided, single submitter clinical testing
Mendelics RCV000987360 SCV001136639 likely benign Cowden syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001689764 SCV001912949 benign not provided 2020-06-25 criteria provided, single submitter clinical testing

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