ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.1431C>T (p.Asp477=)

gnomAD frequency: 0.00083  dbSNP: rs139740946
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842364 SCV000984380 benign not provided 2018-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000842364 SCV001021531 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271078 SCV002553336 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000842364 SCV005276442 benign not provided criteria provided, single submitter not provided

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