ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.-500GGC[7]

dbSNP: rs1237307954
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551621 SCV001772162 likely benign not provided 2020-01-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002257849 SCV002528245 likely benign Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001551621 SCV002544444 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PTEN: BS1
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000581759 SCV002773947 benign not specified 2020-11-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000581759 SCV000691995 uncertain significance not specified no assertion criteria provided clinical testing

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