ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.*11del

gnomAD frequency: 0.00003  dbSNP: rs1391347556
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001257775 SCV001434588 uncertain significance Autism spectrum disorder 2020-04-20 criteria provided, single submitter clinical testing

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