ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.622G>A (p.Asp208Asn) (rs769445973)

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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 RCV000372981 SCV000376134 uncertain significance Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275817 SCV000376135 uncertain significance Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333199 SCV000376136 uncertain significance Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385333 SCV000376137 uncertain significance Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293340 SCV000376138 uncertain significance Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327488 SCV000376139 uncertain significance Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing

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