ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.941G>A (p.Gly314Asp)

dbSNP: rs1005389790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) RCV002272124 SCV002558695 likely pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2022-08-03 criteria provided, single submitter clinical testing ACMG 2015 criteria: PM1, PM2, PP2, PP3
Fulgent Genetics, Fulgent Genetics RCV005025754 SCV005649241 pathogenic Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 2024-04-20 criteria provided, single submitter clinical testing

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