ClinVar Miner

Submissions for variant NM_021969.3(NR0B2):c.227del (p.Phe76fs)

dbSNP: rs779783209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249487 SCV002517813 pathogenic Obesity 2022-05-04 criteria provided, single submitter clinical testing
Colorectal Cancer Research Lab, Singapore General Hospital RCV000859986 SCV000926958 likely pathogenic APC-mutation negative familial colorectal cancer 2019-05-31 no assertion criteria provided research

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