ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.175+98T>C

gnomAD frequency: 0.01235  dbSNP: rs4546197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555925 SCV001777418 likely benign not provided 2018-09-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001555925 SCV005256704 likely benign not provided criteria provided, single submitter not provided

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