ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.723A>C (p.Gln241His)

gnomAD frequency: 0.00004  dbSNP: rs201673987
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002505555 SCV002816866 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2021-09-25 criteria provided, single submitter clinical testing
Invitae RCV002552034 SCV003448877 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029982 SCV001192784 uncertain significance Autosomal dominant Alport syndrome 2019-10-07 no assertion criteria provided clinical testing

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