ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.105A>G (p.Gly35=)

gnomAD frequency: 0.00001  dbSNP: rs1566377603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002192646 SCV002352966 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-08-11 criteria provided, single submitter clinical testing

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