ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.577C>T (p.Leu193Phe) (rs73281150)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568414 SCV000673202 likely benign Hereditary cancer-predisposing syndrome 2018-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515086 SCV000609665 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV000468878 SCV000554687 benign Multiple endocrine neoplasia, type 4 2017-12-21 criteria provided, single submitter clinical testing

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