ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.3408G>A (p.Ter1136=)

gnomAD frequency: 0.00086  dbSNP: rs372461050
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893498 SCV001037436 benign not provided 2023-12-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262809 SCV001440816 likely benign Osteopathia striata with cranial sclerosis 2019-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975650 SCV004786546 benign AMER1-related disorder 2021-05-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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