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: 6
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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
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV004717948 SCV005321457 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001521378 SCV002092961 benign Carnitine palmitoyl transferase 1A deficiency 2019-11-21 no assertion criteria provided clinical testing

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