ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.81T>C (p.Gly27=) (rs34599967)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226240 SCV000290602 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000248682 SCV000313787 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344899 SCV000376188 benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394931 SCV000376189 benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305367 SCV000376190 benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358402 SCV000376191 benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265975 SCV000376192 benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299983 SCV000376193 benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000248682 SCV000615868 benign not specified 2017-07-27 criteria provided, single submitter clinical testing

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