ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.617G>A (p.Arg206His) (rs373108373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000844996 SCV001366493 uncertain significance Charcot-Marie-Tooth disease axonal type 2C 2019-06-21 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
GenomeConnect, ClinGen RCV000844996 SCV000986826 not provided Charcot-Marie-Tooth disease axonal type 2C no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/12/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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