ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1428G>A (p.Leu476=)

gnomAD frequency: 0.00011  dbSNP: rs149557870
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
Invitae RCV000883110 SCV001026391 likely benign Carnitine palmitoyltransferase II deficiency 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000883110 SCV002090305 likely benign Carnitine palmitoyltransferase II deficiency 2020-12-29 no assertion criteria provided clinical testing

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