ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.954C>T (p.Ile318=)

gnomAD frequency: 0.00170  dbSNP: rs35161127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734165 SCV000862287 likely benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000894113 SCV001038080 benign not provided 2024-10-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908054 SCV004725698 likely benign ABCA3-related disorder 2019-04-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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