ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=)

gnomAD frequency: 0.00004  dbSNP: rs727502872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150110 SCV000196934 likely benign not specified 2014-11-12 criteria provided, single submitter clinical testing p.Thr1556Thr in exon 30 of ABCA3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Invitae RCV003727621 SCV004535538 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing

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