ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3554G>T (p.Gly1185Val)

dbSNP: rs2068097992
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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 RCV001280830 SCV001468171 likely pathogenic X-linked Alport syndrome 2020-01-08 no assertion criteria provided clinical testing

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