ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG (rs1554664711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517945 SCV000612395 uncertain significance not specified 2017-07-11 criteria provided, single submitter clinical testing
Mendelics RCV000988173 SCV001137796 likely benign Ataxia-oculomotor apraxia type 1 2019-05-28 criteria provided, single submitter clinical testing

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