ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.2812+3A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883322 SCV004697694 uncertain significance Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies criteria provided, single submitter clinical testing

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