ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1776T>C (p.Ala592=)

gnomAD frequency: 0.00101  dbSNP: rs188655353
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729021 SCV000856654 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729021 SCV001027025 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000729021 SCV001788769 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274057 SCV001457785 likely benign Alport syndrome 2020-05-31 no assertion criteria provided clinical testing

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