ClinVar Miner

Submissions for variant NM_001492.6(GDF1):c.-422-11C>T

gnomAD frequency: 0.09802  dbSNP: rs2075762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125217 SCV000168658 benign not specified 2013-01-09 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 RCV002055555 SCV002340230 benign Progressive myoclonic epilepsy type 8 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717013 SCV005314199 benign not provided criteria provided, single submitter not provided

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