ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.3471A>G (p.Gly1157=)

gnomAD frequency: 0.00001  dbSNP: rs760642457
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002157169 SCV002334865 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-12-14 criteria provided, single submitter clinical testing

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