ClinVar Miner

Submissions for variant NM_001098668.4(SFTPA2):c.-23-5G>A

dbSNP: rs1650232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001649301 SCV001862967 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23328842, 9003399)
Genome-Nilou Lab RCV001807476 SCV002055155 benign Interstitial lung disease 2 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001649301 SCV005318218 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003975786 SCV004800783 benign SFTPA2-related disorder 2021-07-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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