ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.968-8C>T

gnomAD frequency: 0.08414  dbSNP: rs2305507
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079921 SCV000111804 benign not specified 2016-01-15 criteria provided, single submitter clinical testing
Invitae RCV001521378 SCV001730713 benign Carnitine palmitoyl transferase 1A deficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001521378 SCV001749221 benign Carnitine palmitoyl transferase 1A deficiency 2021-07-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001521378 SCV003800013 benign Carnitine palmitoyl transferase 1A deficiency 2023-11-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001521378 SCV002092961 benign Carnitine palmitoyl transferase 1A deficiency 2019-11-21 no assertion criteria provided clinical testing

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