ClinVar Miner

Submissions for variant NM_003172.4(SURF1):c.107-2A>G

gnomAD frequency: 0.00001  dbSNP: rs782726390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090696 SCV001246376 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
OMIM RCV000202482 SCV000257492 pathogenic Charcot-Marie-Tooth disease type 4K 2013-10-22 no assertion criteria provided literature only

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