ClinVar Miner

Submissions for variant NM_001199753.2(CPT1C):c.996C>T (p.His332=)

gnomAD frequency: 0.00007  dbSNP: rs199774629
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874314 SCV001016472 benign Hereditary spastic paraplegia 73 2024-01-18 criteria provided, single submitter clinical testing

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