ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His)

gnomAD frequency: 0.00002  dbSNP: rs754184016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002241078 SCV001381825 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-11-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252330 SCV002523678 uncertain significance See cases 2020-04-22 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP3

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