ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2415-4T>G

gnomAD frequency: 0.00006  dbSNP: rs201775187
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000308453 SCV000395979 uncertain significance Pulmonary Surfactant Metabolism Dysfunction, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV003698763 SCV004467032 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing

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