ClinVar Miner

Submissions for variant NM_032575.3(GLIS2):c.1539G>A (p.Pro513=)

gnomAD frequency: 0.00004  dbSNP: rs769088578
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229434 SCV000291104 likely benign Nephronophthisis 2024-02-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487091 SCV002792691 uncertain significance Nephronophthisis 7 2021-10-05 criteria provided, single submitter clinical testing

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