ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs)

dbSNP: rs1057524874
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003449100 SCV004189777 pathogenic Cowden syndrome 1 2023-09-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
OMIM RCV000445351 SCV000536681 pathogenic Macrocephaly-autism syndrome 2017-03-06 no assertion criteria provided literature only

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