ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.670A>C (p.Arg224=) (rs3825394)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000248184 SCV000615863 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318188 SCV000376116 benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372711 SCV000376117 benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278253 SCV000376118 benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352038 SCV000376119 benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387910 SCV000376120 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293693 SCV000376121 benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000248184 SCV000313784 benign not specified criteria provided, single submitter clinical testing

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