ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1766+73T>G

gnomAD frequency: 0.00036  dbSNP: rs397508299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729354 SCV000857007 uncertain significance not provided 2017-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000577334 SCV001614606 likely benign Cystic fibrosis 2024-04-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000729354 SCV004563237 likely benign not provided 2023-04-05 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577334 SCV000679339 not provided Cystic fibrosis no assertion provided literature only

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