ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.991-20C>T

gnomAD frequency: 0.12151  dbSNP: rs13332547
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001656628 SCV001865374 benign not provided 2018-07-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001656628 SCV002342116 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386494 SCV002691313 benign Hereditary pulmonary alveolar proteinosis 2015-10-14 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001656628 SCV005290780 benign not provided criteria provided, single submitter not provided

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