ClinVar Miner

Submissions for variant NM_002239.4(KCNJ3):c.1494T>C (p.Asp498=)

gnomAD frequency: 0.00369  dbSNP: rs80085601
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 RCV000882188 SCV001025415 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882188 SCV005330159 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing KCNJ3: BP4, BP7, BS2

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