ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.2157G>A (p.Met719Ile)

gnomAD frequency: 0.00014  dbSNP: rs142355260
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000931256 SCV001076920 benign not provided 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002514616 SCV003734903 benign Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ITMI RCV000120002 SCV000084132 not provided not specified 2013-09-19 no assertion provided reference population

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