ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.4882_4885del (p.Pro1628fs) (rs886039886)

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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	RCV000256398	SCV000323160	pathogenic	Alport syndrome 1, X-linked recessive		no assertion criteria provided	clinical testing

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