ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)

gnomAD frequency: 0.00262  dbSNP: rs61731903
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001079186 SCV000885259 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-09-22 criteria provided, single submitter clinical testing
Invitae RCV001079186 SCV001006451 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000757135 SCV001872431 benign not provided 2021-03-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000757135 SCV002497148 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing CPT1A: BP4, BS2
Genetics and Molecular Pathology, SA Pathology RCV001079186 SCV002556865 likely benign Carnitine palmitoyl transferase 1A deficiency 2021-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938139 SCV004750613 benign CPT1A-related disorder 2020-03-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001079186 SCV001460481 likely benign Carnitine palmitoyl transferase 1A deficiency 2020-09-16 no assertion criteria provided clinical testing

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