ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.493-12dup

dbSNP: rs756623620
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000584653 SCV000691168 likely benign Hereditary cancer-predisposing syndrome 2016-07-11 criteria provided, single submitter clinical testing
Counsyl RCV000662747 SCV000785528 likely benign Cowden syndrome 1 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV001613432 SCV001834122 benign not provided 2015-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060796 SCV002493017 benign PTEN hamartoma tumor syndrome 2024-01-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662747 SCV004019919 benign Cowden syndrome 1 2023-04-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing.

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