ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.472-24T>A

gnomAD frequency: 0.98520  dbSNP: rs2420494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001678390 SCV001895793 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807498 SCV002055165 benign Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001678390 SCV005320865 benign not provided criteria provided, single submitter not provided

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