ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4090G>T (p.Gly1364Cys)

dbSNP: rs1553622675
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625562 SCV000746058 likely pathogenic Autosomal dominant Alport syndrome 2017-09-18 no assertion criteria provided clinical testing

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