ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn)

gnomAD frequency: 0.00007  dbSNP: rs144510951
Minimum review status: Collection method:
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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
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375336 SCV001572054 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, PP3_Supporting
Invitae RCV002550216 SCV003487572 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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