ClinVar Miner

Submissions for variant NM_001098668.4(SFTPA2):c.292+21G>A

gnomAD frequency: 0.33614  dbSNP: rs17884396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807588 SCV002055154 benign Interstitial lung disease 2 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718983 SCV005318211 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004758197 SCV005346773 benign SFTPA2-related disorder 2021-05-21 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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