ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.902C>T (p.Pro301Leu) (rs192047082)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991647 SCV001143285 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV000991647 SCV001197802 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375076 SCV001571893 uncertain significance Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PP3_Supporting
GeneDx RCV000991647 SCV001763966 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing Previously reported in a female with infantile malignant osteopetrosis who also harbored a homozygous frameshift variant in the TCIRG1 gene (Zhang et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 357811; Landrum et al., 2016)

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