ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.1146T>C (p.Val382=)

dbSNP: rs1405950971
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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 RCV001417643 SCV001619848 likely benign Renal carnitine transport defect 2022-10-27 criteria provided, single submitter clinical testing

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