Submissions for variant NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) (rs375851168)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517235	SCV000615855	uncertain significance	not specified	2017-03-29	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000765039	SCV000896236	uncertain significance	Brachyrachia (short spine dysplasia); Digital arthropathy-brachydactyly, familial; Metatrophic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepiphyseal dysplasia Maroteaux type; Distal spinal muscular atrophy, congenital nonprogressive; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease type 2C; Avascular necrosis of femoral head, primary, 2	2018-10-31	criteria provided, single submitter	clinical testing

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