ClinVar Miner

Submissions for variant NM_153766.3(KCNJ1):c.45G>A (p.Gly15=)

gnomAD frequency: 0.01875  dbSNP: rs75088315
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297984 SCV000368825 likely benign Antenatal Bartter syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972489 SCV001120202 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289020 SCV001476514 benign not specified 2019-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000972489 SCV001852438 benign not provided 2020-04-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972489 SCV005211307 likely benign not provided criteria provided, single submitter not provided

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