ClinVar Miner

Submissions for variant NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)

gnomAD frequency: 0.57192  dbSNP: rs237025
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001668122 SCV001887301 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25189908, 15247916, 21158221, 19915388, 20518843, 22884980, 19410319, 17130563)
Mendelics RCV002247237 SCV002516685 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000002143 SCV000022301 pathogenic Type 1 diabetes mellitus 5 2005-02-01 no assertion criteria provided literature only

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