ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala)

dbSNP: rs1877834496
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV002246307 SCV001520112 uncertain significance Brain small vessel disease 1 with or without ocular anomalies 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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