ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1678+23C>T (rs147546456)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652047 SCV000773913 benign Very long chain acyl-CoA dehydrogenase deficiency 2020-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000652047 SCV000799649 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-04-27 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000652047 SCV001365167 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1678+23C>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224575C>T] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.
Baylor Genetics RCV000652047 SCV001526917 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-04-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV000652047 SCV001455190 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-01-09 no assertion criteria provided clinical testing

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