ClinVar Miner

Submissions for variant NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)

gnomAD frequency: 0.00003  dbSNP: rs748677211
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001279118 SCV001681496 likely benign Renal carnitine transport defect 2024-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279118 SCV001466187 uncertain significance Renal carnitine transport defect 2020-08-25 no assertion criteria provided clinical testing

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