ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.171T>C (p.Pro57=) (rs886048941)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000321831 SCV000376176 uncertain significance Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374276 SCV000376177 uncertain significance Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263321 SCV000376178 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315912 SCV000376179 uncertain significance Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372893 SCV000376180 uncertain significance Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294966 SCV000376181 uncertain significance Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing

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