ClinVar Miner

Submissions for variant NM_004035.7(ACOX1):c.1794G>T (p.Leu598=)

gnomAD frequency: 0.00571  dbSNP: rs79605652
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000960574 SCV001107570 benign Acyl-CoA oxidase deficiency 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710218 SCV005252364 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000960574 SCV001463628 benign Acyl-CoA oxidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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