ClinVar Miner

Submissions for variant NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln)

gnomAD frequency: 0.68037  dbSNP: rs2228226
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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 RCV001702335 SCV001933810 benign Polydactyly, postaxial, type A8 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702040 SCV001933811 benign Polydactyly of a biphalangeal thumb 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707684 SCV005235434 benign not provided criteria provided, single submitter not provided

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