ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.501C>T (p.Asp167=) (rs77680510)

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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 RCV000713883 SCV000844523 benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398054 SCV000376146 likely benign Scapuloperoneal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301088 SCV000376147 likely benign Metatrophic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353564 SCV000376148 likely benign Distal spinal muscular atrophy, congenital nonprogressive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398062 SCV000376149 likely benign Spondylometaphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313884 SCV000376150 likely benign Charcot-Marie-Tooth disease, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371344 SCV000376151 likely benign Brachyolmia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000463178 SCV000560178 likely benign Charcot-Marie-Tooth disease type 2C 2017-01-12 criteria provided, single submitter clinical testing

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