ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=)

gnomAD frequency: 0.00050  dbSNP: rs146084461
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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 RCV000880712 SCV001023831 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507556 SCV002811199 likely benign Bartter disease type 3; Bartter disease type 4B 2021-07-26 criteria provided, single submitter clinical testing

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