ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1471C>T (p.Leu491Phe)

gnomAD frequency: 0.00003  dbSNP: rs777805216
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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 RCV001315658 SCV001506245 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504486 SCV002814413 uncertain significance Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836294 SCV002084154 uncertain significance Alport syndrome 2020-01-30 no assertion criteria provided clinical testing

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