ClinVar Miner

Submissions for variant NM_001113491.2(SEPTIN9):c.721+2405G>A

gnomAD frequency: 0.40401  dbSNP: rs2164449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004710157 SCV005252474 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615412 SCV000733706 benign Amyotrophic neuralgia no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701066 SCV001923483 benign not specified no assertion criteria provided clinical testing

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