ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1210-13_1210-10del

dbSNP: rs765376630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393959 SCV000345737 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing
Invitae RCV001516152 SCV001724383 benign Cystic fibrosis 2021-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000393959 SCV002770147 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing Identified in a male with normal semen analysis and in males with congenital bilateral absence of the vas deferens (CBAVD), however, segregation and detailed clinical information was not provided (Tamburino et al., 2008; Trujillano et al., 2015); In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 26436105, 18616886)

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