ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.853GAAAAGGGA[2] (p.285EKG[2])

dbSNP: rs772506311
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951781 SCV001098215 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502934 SCV002813045 benign Hearing loss, X-linked 6 2022-03-09 criteria provided, single submitter clinical testing

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