ClinVar Miner

Submissions for variant NM_206965.2(FTCD):c.1470C>T (p.Gly490=)

gnomAD frequency: 0.09606  dbSNP: rs10432965
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319912 SCV000436881 benign Glutamate formiminotransferase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339511 SCV000483983 benign Collagen 6-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404701 SCV000483984 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000319912 SCV001718264 benign Glutamate formiminotransferase deficiency 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972435 SCV004795955 benign FTCD-related condition 2019-09-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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