ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.4404G>A (p.Thr1468=)

gnomAD frequency: 0.00032  dbSNP: rs147362613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001675203 SCV001892882 benign not provided 2019-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001675203 SCV002406093 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271287 SCV002555032 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing

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