ClinVar Miner

Submissions for variant NM_001846.4(COL4A2):c.1189+212A>T

gnomAD frequency: 0.00636  dbSNP: rs143417062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576158 SCV001803288 likely benign not provided 2018-09-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001576158 SCV005218311 likely benign not provided criteria provided, single submitter not provided

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