ClinVar Miner

Submissions for variant NM_003018.3(SFTPC):c.-56_-55dup

gnomAD frequency: 0.00012  dbSNP: rs545529507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000378296 SCV000472989 likely benign Pulmonary Surfactant Metabolism Dysfunction, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263966 SCV000472990 likely benign Interstitial lung disease 2 2016-06-14 criteria provided, single submitter clinical testing

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