ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3717+45G>A

gnomAD frequency: 0.00058  dbSNP: rs145743767
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591755 SCV000709661 benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Mendelics RCV000577129 SCV001137495 likely benign Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000577129 SCV001731521 benign Cystic fibrosis 2023-09-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114233 SCV003800570 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003114233 SCV004221693 benign not provided 2023-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003114233 SCV005221523 likely benign not provided criteria provided, single submitter not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577129 SCV000679446 not provided Cystic fibrosis no assertion provided literature only

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