ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.4087-25C>T

gnomAD frequency: 0.14256  dbSNP: rs2076713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539387 SCV001757161 benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796597 SCV002033097 benign Charcot-Marie-Tooth disease type 4B3 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539387 SCV005275932 benign not provided criteria provided, single submitter not provided

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