ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.930G>C (p.Arg310=)

gnomAD frequency: 0.00036  dbSNP: rs147373480
Minimum review status: Collection method:
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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
Invitae RCV000872832 SCV001014713 likely benign Carnitine palmitoyl transferase 1A deficiency 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000872832 SCV001457994 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-02-13 no assertion criteria provided clinical testing

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