ClinVar Miner

Submissions for variant NM_032575.3(GLIS2):c.1560G>A (p.Pro520=)

gnomAD frequency: 0.00002  dbSNP: rs759274279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732752 SCV000860736 uncertain significance not provided 2018-04-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493346 SCV002802072 uncertain significance Nephronophthisis 7 2022-05-04 criteria provided, single submitter clinical testing

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