ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.361-42C>T

gnomAD frequency: 0.29607  dbSNP: rs2275112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001717988 SCV001944257 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807524 SCV002055167 benign Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001717988 SCV005320868 benign not provided criteria provided, single submitter not provided

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