ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4081+7T>C

gnomAD frequency: 0.00001  dbSNP: rs779775976
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674063 SCV000799336 likely benign Autosomal recessive Alport syndrome 2018-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003727801 SCV004533842 likely benign not provided 2023-01-25 criteria provided, single submitter clinical testing

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