ClinVar Miner

Submissions for variant NM_213649.2(SFXN4):c.354A>G (p.Ala118=)

gnomAD frequency: 0.98355  dbSNP: rs2181118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001807589 SCV002055168 benign Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077261 SCV002408303 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002077261 SCV005320870 benign not provided criteria provided, single submitter not provided

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