ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.1211G>A (p.Arg404His)

gnomAD frequency: 0.00001  dbSNP: rs751317107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249924 SCV002519593 pathogenic Distal arthrogryposis type 5D 2022-05-04 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252780 SCV002523140 uncertain significance See cases 2021-05-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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