ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.1066+8T>C

gnomAD frequency: 0.00006  dbSNP: rs80356647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000211486 SCV000212172 likely benign Hyperparathyroidism 2 with jaw tumors 2015-03-11 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000020879 SCV000554267 likely benign Parathyroid carcinoma 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496431 SCV002807096 likely benign Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 with jaw tumors 2021-08-13 criteria provided, single submitter clinical testing
GeneReviews RCV000020879 SCV000041473 not provided Parathyroid carcinoma no assertion provided literature only

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