ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.233del (p.Pro78fs)

dbSNP: rs398124642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000077774 SCV002765058 pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2019-06-05 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PM3_SUP
OMIM RCV000077774 SCV000109596 pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2013-11-07 no assertion criteria provided literature only

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