ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.309C>T (p.Asn103=)

dbSNP: rs200536266
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 RCV000909938 SCV001054775 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000909938 SCV001460480 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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