ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.1669A>C (p.Thr557Pro)

gnomAD frequency: 0.00032  dbSNP: rs145798229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002275848 SCV002562618 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002275848 SCV003271400 benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042774 SCV005683406 uncertain significance Bartter disease type 3; Bartter disease type 4B 2024-01-20 criteria provided, single submitter clinical testing

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