ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.219G>A (p.Lys73=)

dbSNP: rs573353679
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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 RCV000554618 SCV000646201 likely benign Multiple endocrine neoplasia type 4 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994852 SCV001148644 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014764 SCV001175517 likely benign Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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