ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4673C>T (p.Ala1558Val)

gnomAD frequency: 0.00001  dbSNP: rs760044982
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674978 SCV000800398 uncertain significance Autosomal recessive Alport syndrome 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV003558530 SCV004293989 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing

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