ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1251C>T (p.Phe417=)

gnomAD frequency: 0.00010  dbSNP: rs576822710
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 RCV000918066 SCV001063365 likely benign Carnitine palmitoyltransferase II deficiency 2023-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000918066 SCV001464564 likely benign Carnitine palmitoyltransferase II deficiency 2020-09-22 no assertion criteria provided clinical testing

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