ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1083G>A (p.Gln361=)

gnomAD frequency: 0.00006  dbSNP: rs761229343
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 RCV001423880 SCV001626469 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001423880 SCV002092959 benign Carnitine palmitoyl transferase 1A deficiency 2020-07-05 no assertion criteria provided clinical testing

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