ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.212T>A (p.Leu71Gln)

gnomAD frequency: 0.00001  dbSNP: rs776056801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001822053 SCV002064216 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV001822053 SCV004271666 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing

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