ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter)

dbSNP: rs2093682532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169963 SCV001251672 pathogenic Interstitial lung disease due to ABCA3 deficiency 2020-05-03 criteria provided, single submitter clinical testing

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