ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.117del (p.Ala39_Val40insTer)

gnomAD frequency: 0.00004  dbSNP: rs771955031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734982 SCV000863167 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507311 SCV002814617 uncertain significance Fanconi renotubular syndrome 3 2022-02-22 criteria provided, single submitter clinical testing

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