ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.303T>C (p.Phe101=)

gnomAD frequency: 0.01271  dbSNP: rs149820261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610017 SCV000726950 benign not specified 2018-01-29 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 RCV000945328 SCV001091323 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270847 SCV002553448 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000945328 SCV005276461 benign not provided criteria provided, single submitter not provided

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