ClinVar Miner

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

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Total submissions: 3
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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
GeneReviews RCV000002582 SCV000041481 pathologic Charcot-Marie-Tooth disease, type 4C 2008-03-31 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000002582 SCV000022740 pathogenic Charcot-Marie-Tooth disease, type 4C 2003-11-01 no assertion criteria provided literature only

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