ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3654A>G (p.Ser1218=)

gnomAD frequency: 0.00316  dbSNP: rs141971833
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367909 SCV000381956 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 RCV000525557 SCV000649425 benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001569272 SCV001793315 likely benign not provided 2018-07-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001569272 SCV002506321 benign not provided 2022-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000525557 SCV002811769 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-05-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001569272 SCV005213541 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729520 SCV001977953 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001729520 SCV001978920 benign not specified no assertion criteria provided clinical testing

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