ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3984A>T (p.Gly1328=)

gnomAD frequency: 0.00001  dbSNP: rs750748339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671526 SCV000796510 likely benign Autosomal recessive Alport syndrome 2017-12-27 criteria provided, single submitter clinical testing
Invitae RCV002066978 SCV002474410 likely benign not provided 2022-03-27 criteria provided, single submitter clinical testing

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