ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.-202C>T

gnomAD frequency: 0.00602  dbSNP: rs183710253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359300 SCV000377004 likely benign Multiple endocrine neoplasia type 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001571471 SCV001795954 likely benign not provided 2018-06-23 criteria provided, single submitter clinical testing

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