ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.941G>T (p.Gly314Val)

dbSNP: rs1005389790
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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 RCV000735782 SCV000863944 likely pathogenic Autosomal dominant Alport syndrome 2018-09-14 no assertion criteria provided clinical testing

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