ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1092G>A (p.Gln364=)

gnomAD frequency: 0.00010  dbSNP: rs199640034
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351929 SCV000336084 uncertain significance not provided 2015-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089338 SCV001124319 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-12-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001089338 SCV002092958 likely benign Carnitine palmitoyl transferase 1A deficiency 2021-08-18 no assertion criteria provided clinical testing

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