ClinVar Miner

Submissions for variant NM_001003722.2(GLE1):c.99+29C>G

gnomAD frequency: 0.04523  dbSNP: rs56164320
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543998 SCV001762923 benign Lethal arthrogryposis-anterior horn cell disease syndrome 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543999 SCV001762924 benign Lethal congenital contracture syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001713122 SCV001945544 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713122 SCV005320669 benign not provided criteria provided, single submitter not provided

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