ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter)

gnomAD frequency: 0.00001  dbSNP: rs756173225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266800 SCV001444979 pathogenic Inborn genetic diseases 2018-11-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330860 SCV001522691 likely pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2020-01-09 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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