ClinVar Miner

Submissions for variant NM_017415.3(KLHL3):c.1321+10C>T

gnomAD frequency: 0.00014  dbSNP: rs145091610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270829 SCV000452921 likely benign Autosomal dominant pseudohypoaldosteronism type 1 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488772 SCV002800092 likely benign Pseudohypoaldosteronism type 2D 2022-01-04 criteria provided, single submitter clinical testing
Invitae RCV002523503 SCV003495591 likely benign not provided 2022-07-02 criteria provided, single submitter clinical testing

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