ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) (rs115861965)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198119 SCV000253571 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352146 SCV000376182 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385405 SCV000376183 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293429 SCV000376184 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345891 SCV000376185 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403939 SCV000376186 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306416 SCV000376187 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516285 SCV000615851 benign not specified 2016-10-13 criteria provided, single submitter clinical testing

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