ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=)

gnomAD frequency: 0.00146  dbSNP: rs150692587
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974287 SCV001122104 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288430 SCV001475521 benign not specified 2020-01-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276416 SCV002055379 benign Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276416 SCV001462682 likely benign Familial hypokalemia-hypomagnesemia 2019-12-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003936185 SCV004755802 likely benign SLC12A3-related disorder 2019-03-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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