ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)

gnomAD frequency: 0.00004  dbSNP: rs758572818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001279119 SCV001621568 likely benign Renal carnitine transport defect 2025-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279119 SCV001466188 uncertain significance Renal carnitine transport defect 2020-08-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003898262 SCV004717173 likely benign SLC22A5-related disorder 2023-06-20 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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