ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) (rs72650732)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756937 SCV000884928 likely benign not provided 2017-09-11 criteria provided, single submitter clinical testing The c.4605_4607delCAG; p.Ser1536del variant (rs72650732) has not been reported in the medical literature in association with hereditary sensory neuropathy. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.2 percent (identified on 639 out of 276,660 chromosomes, including 5 homozygotes), and is reported to the ClinVar database (Variation ID: 310831) as a likely benign variant. Based on these observations, the p.Ser1536del variant is likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000333723 SCV000381984 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388274 SCV000381985 likely benign Pseudohypoaldosteronism, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528846 SCV000649439 benign Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2017-09-05 criteria provided, single submitter clinical testing

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