ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.2013C>T (p.Pro671=)

gnomAD frequency: 0.00003  dbSNP: rs200299007
Minimum review status: Collection method:
Minimum conflict level:
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 RCV002093232 SCV002376604 likely benign not provided 2021-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494169 SCV002803140 likely benign Hearing loss, X-linked 6 2021-07-28 criteria provided, single submitter clinical testing

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