ClinVar Miner

Submissions for variant NM_153766.3(KCNJ1):c.180C>T (p.Tyr60=)

gnomAD frequency: 0.00081  dbSNP: rs104894244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000423731 SCV000510704 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000423731 SCV003484467 benign not provided 2024-01-18 criteria provided, single submitter clinical testing

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