ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1395G>T (p.Gly465=)

dbSNP: rs774577615
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002052303 SCV004268700 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-06-15 criteria provided, single submitter clinical testing
GeneReviews RCV002052303 SCV002318978 not provided Carnitine palmitoyl transferase 1A deficiency no assertion provided literature only

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