ClinVar Miner

Submissions for variant NM_001966.4(EHHADH):c.42C>G (p.Ile14Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142401 SCV003806760 uncertain significance Fanconi renotubular syndrome 3 2022-04-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated

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