ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1512A>G (p.Leu504=) (rs56325964)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000276594 SCV000381811 likely benign Pseudohypoaldosteronism type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315317 SCV000381812 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547441 SCV000649395 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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