ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.875-2A>G (rs904293109)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory,University of Chicago	RCV000501832	SCV000593267	pathogenic	Ataxia-oculomotor apraxia type 1	2015-11-23	criteria provided, single submitter	clinical testing

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