ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.280C>T (p.Leu94=)

gnomAD frequency: 0.00001  dbSNP: rs747811573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531990 SCV000636195 likely benign Parathyroid carcinoma 2023-09-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438342 SCV002752322 likely benign Hereditary cancer-predisposing syndrome 2020-06-19 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.
Fulgent Genetics, Fulgent Genetics RCV002506325 SCV002809209 likely benign Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2022-02-19 criteria provided, single submitter clinical testing

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