ClinVar Miner

Submissions for variant NM_144670.6(A2ML1):c.887T>C (p.Val296Ala)

gnomAD frequency: 0.00019  dbSNP: rs192888493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456583 SCV000556880 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000456583 SCV001982627 benign not provided 2021-10-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907751 SCV004722070 likely benign A2ML1-related condition 2022-02-21 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).
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000201258 SCV000255640 uncertain significance Nonsyndromic otitis media 2014-05-28 no assertion criteria provided research

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