ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.654A>C (p.Pro218=)

gnomAD frequency: 0.00075  dbSNP: rs149430391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000895744 SCV001039803 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968189 SCV004784705 likely benign ACADS-related disorder 2024-02-06 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).
CeGaT Center for Human Genetics Tuebingen RCV000895744 SCV005050770 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing ACADS: BP4, BP7

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