ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5312G>T (p.Gly1771Val)

gnomAD frequency: 0.00001  dbSNP: rs770566791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001043392 SCV001207136 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001043392 SCV002779481 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-03-16 criteria provided, single submitter clinical testing

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