ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.3760G>T (p.Ala1254Ser)

gnomAD frequency: 0.00827  dbSNP: rs145388022
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244251 SCV000308145 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000844489 SCV000986540 benign not provided 2018-05-01 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 RCV000844489 SCV001021316 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270142 SCV002555098 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000844489 SCV005206678 likely benign not provided criteria provided, single submitter not provided

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