ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.677C>T (p.Ala226Val)

gnomAD frequency: 0.00012  dbSNP: rs151157939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000916180 SCV001061413 likely benign not provided 2018-08-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141896 SCV003827543 uncertain significance Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2022-03-10 criteria provided, single submitter clinical testing

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