ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.938G>T (p.Gly313Val)

dbSNP: rs2147781020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814741 SCV002061541 likely pathogenic X-linked Alport syndrome 2021-09-21 criteria provided, single submitter clinical testing PM5_Supporting, PP2, PS4_Supporting, PM1, PM2, PS3_Moderate

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