ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2020A>G (p.Thr674Ala)

gnomAD frequency: 0.00803  dbSNP: rs11833299
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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 RCV000290080 SCV000381823 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539670 SCV000649400 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001565042 SCV001788310 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001660619 SCV001880182 benign not specified 2021-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000539670 SCV002805381 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-12-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565042 SCV005211352 likely benign not provided criteria provided, single submitter not provided

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