ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter)

dbSNP: rs147895061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003147547 SCV003835221 pathogenic Charcot-Marie-Tooth disease type 4C 2022-05-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036122 SCV005668521 pathogenic Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild 2024-04-19 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789580 SCV000928936 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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