ClinVar Miner

Submissions for variant NM_022482.5(GZF1):c.824A>C (p.Gln275Pro)

gnomAD frequency: 0.56687  dbSNP: rs6048760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001530633 SCV001745520 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703012 SCV001934075 benign Joint laxity, short stature, and myopia 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001530633 SCV002409544 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001530633 SCV005312992 benign not provided criteria provided, single submitter not provided

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