ClinVar Miner

Submissions for variant NM_000220.5(KCNJ1):c.762C>T (p.Asp254=) (rs142030262)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518303 SCV000613858 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Invitae RCV000895805 SCV001039871 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001107278 SCV001264419 uncertain significance Bartter syndrome, type 2, antenatal 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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