ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1812C>T (p.Thr604=)

gnomAD frequency: 0.00001  dbSNP: rs772047118
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001425466 SCV001628094 likely benign Carnitine palmitoyl transferase 1A deficiency 2023-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704546 SCV005219310 likely benign not provided criteria provided, single submitter not provided

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