ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.530-2A>G

dbSNP: rs80338920
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002584 SCV000022742 pathogenic Charcot-Marie-Tooth disease type 4C 2003-11-01 no assertion criteria provided literature only
GeneReviews RCV000002584 SCV000041498 not provided Charcot-Marie-Tooth disease type 4C no assertion provided literature only
Inherited Neuropathy Consortium RCV000790209 SCV000929601 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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