ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.5073G>C (p.Ter1691Tyr)

gnomAD frequency: 0.00001  dbSNP: rs769660371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667473 SCV000791926 uncertain significance Autosomal recessive Alport syndrome 2017-05-31 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029988 SCV001192790 uncertain significance Autosomal dominant Alport syndrome 2019-10-09 no assertion criteria provided clinical testing

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