ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.594G>T (p.Thr198=)

gnomAD frequency: 0.00001  dbSNP: rs759798627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108445 SCV002439762 likely benign Multiple endocrine neoplasia type 4 2021-11-05 criteria provided, single submitter clinical testing

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