ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.2264-17G>A

gnomAD frequency: 0.02084  dbSNP: rs45538638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589818 SCV001815294 likely benign not provided 2018-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001589818 SCV002402922 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001589818 SCV005219033 likely benign not provided criteria provided, single submitter not provided

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