ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.77-28563T>C

gnomAD frequency: 0.40683  dbSNP: rs7217986
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719155 SCV001949456 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608434 SCV000733705 benign Amyotrophic neuralgia no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701065 SCV001919973 benign not specified no assertion criteria provided clinical testing

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