ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1446_1447del (p.Val483fs)

dbSNP: rs1553169787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667150 SCV000791557 likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form 2017-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472085 SCV004211095 likely pathogenic Encephalopathy, acute, infection-induced, susceptibility to, 4 2022-01-02 criteria provided, single submitter clinical testing

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