ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.964-1G>C

gnomAD frequency: 0.00002  dbSNP: rs757885420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SingHealth Duke-NUS Institute of Precision Medicine RCV000721997 SCV000853159 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2017-06-07 no assertion criteria provided curation

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