ClinVar Miner

Submissions for variant NM_001244710.2(GFPT1):c.7+36T>C

gnomAD frequency: 0.57447  dbSNP: rs6720415
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253707 SCV000308690 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000841161 SCV000983119 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001519182 SCV001728005 benign Congenital myasthenic syndrome 12 2025-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519182 SCV001933776 benign Congenital myasthenic syndrome 12 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000841161 SCV005240032 benign not provided criteria provided, single submitter not provided

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