ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.656-31del

gnomAD frequency: 0.00046  dbSNP: rs751608665
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791187 SCV000930468 pathogenic Bartter disease type 3 2022-12-24 criteria provided, single submitter clinical testing
Mendelics RCV000791187 SCV001135190 uncertain significance Bartter disease type 3 2023-11-27 criteria provided, single submitter clinical testing

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