ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile)

gnomAD frequency: 0.00011  dbSNP: rs143020337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902925 SCV001047368 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000902925 SCV002504132 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Natera, Inc. RCV001274534 SCV001458776 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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