ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4522G>A (p.Gly1508Ser) (rs1003748020)

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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	RCV001029868	SCV001192656	pathogenic	Alport syndrome 3, autosomal dominant	2019-11-19	no assertion criteria provided	clinical testing

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