ClinVar Miner

Submissions for variant NM_018046.5(AGGF1):c.397G>A (p.Glu133Lys)

gnomAD frequency: 0.01003  dbSNP: rs34203073
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455025 SCV000538242 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 185/13004=1.4%
GeneDx RCV001672749 SCV001889531 benign not provided 2018-12-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 14961121, 16443853)
CeGaT Center for Human Genetics Tuebingen RCV001672749 SCV005093283 benign not provided 2024-07-01 criteria provided, single submitter clinical testing AGGF1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001672749 SCV005226189 likely benign not provided criteria provided, single submitter not provided

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