ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.648T>A (p.Ala216=)

gnomAD frequency: 0.00007  dbSNP: rs143149579
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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 RCV000638117 SCV000759602 likely benign Parathyroid carcinoma 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358796 SCV002656081 likely benign Hereditary cancer-predisposing syndrome 2020-08-20 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 RCV002483814 SCV002776095 uncertain significance Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2021-12-16 criteria provided, single submitter clinical testing

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