ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=)

gnomAD frequency: 0.00004  dbSNP: rs374270799
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153134 SCV000202594 uncertain significance not provided 2014-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000153134 SCV001727759 benign not provided 2024-04-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004532722 SCV004721914 likely benign CYP4V2-related disorder 2019-07-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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