ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.189G>A (p.Arg63=)

gnomAD frequency: 0.00136  dbSNP: rs35240149
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000959218 SCV001106115 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000959218 SCV001145661 likely benign not provided 2018-09-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502997 SCV002810584 likely benign Bartter disease type 1 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000959218 SCV004129785 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SLC12A1: BP4, BP7

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