ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.342+18G>A

gnomAD frequency: 0.00001  dbSNP: rs372594520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334153 SCV001526918 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-02-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001334153 SCV003251781 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-12-24 criteria provided, single submitter clinical testing

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