ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.3192A>G (p.Pro1064=)

gnomAD frequency: 0.00128  dbSNP: rs149715446
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887470 SCV001031026 benign not provided 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000887470 SCV001874463 benign not provided 2019-10-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271103 SCV002555143 benign Hearing loss, X-linked 6 2022-03-15 criteria provided, single submitter clinical testing

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