ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) (rs80338923)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000002582 SCV000255842 pathogenic Charcot-Marie-Tooth disease, type 4C 2013-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000998463 SCV001154552 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
OMIM RCV000002582 SCV000022740 pathogenic Charcot-Marie-Tooth disease, type 4C 2003-11-01 no assertion criteria provided literature only
GeneReviews RCV000002582 SCV000041481 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.
Genesis Genome Database RCV000857152 SCV000999733 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-14 no assertion criteria provided research

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