ClinVar Miner

Submissions for variant NM_001606.5(ABCA2):c.1193C>A (p.Thr398Lys)

dbSNP: rs143473036
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626005 SCV000746614 uncertain significance ABCA2-related disorder 2017-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000907194 SCV001051884 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000907194 SCV004163960 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing ABCA2: PP2, BS2
PreventionGenetics, part of Exact Sciences RCV000626005 SCV004796379 likely benign ABCA2-related disorder 2022-12-01 criteria provided, single submitter 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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