ClinVar Miner

Submissions for variant NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)

dbSNP: rs1855045353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278053 SCV003472227 likely benign Carnitine palmitoyl transferase 1A deficiency 2022-07-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278053 SCV001465046 uncertain significance Carnitine palmitoyl transferase 1A deficiency 2020-08-13 no assertion criteria provided clinical testing

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