ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4320C>T (p.Ile1440=)

gnomAD frequency: 0.00055  dbSNP: rs72650730
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000306642 SCV000381975 benign Pseudohypoaldosteronism type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000554152 SCV000649427 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000554152 SCV002796505 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-03-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001729521 SCV005074491 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing WNK1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729521 SCV001978148 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729521 SCV001979176 likely benign not provided no assertion criteria provided clinical testing

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