ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.4614C>T (p.Asp1538=)

gnomAD frequency: 0.00003  dbSNP: rs540623115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931696 SCV001077367 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925801 SCV004746168 likely benign ABCA12-related disorder 2019-05-10 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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