ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.693T>C (p.Ser231=)

dbSNP: rs77763289
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252213 SCV000301528 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002057275 SCV002443148 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2024-01-24 criteria provided, single submitter clinical testing

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