ClinVar Miner

Submissions for variant NM_016824.5(ADD3):c.1596T>A (p.Asp532Glu)

gnomAD frequency: 0.00058  dbSNP: rs143966199
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950436 SCV001096743 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950436 SCV001148076 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing

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