ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.2253G>A (p.Ala751=)

gnomAD frequency: 0.00016  dbSNP: rs200456484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001810364 SCV002056085 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32398770)
Fulgent Genetics, Fulgent Genetics RCV002489859 SCV002797307 likely benign Polycystic kidney disease 3 with or without polycystic liver disease 2022-05-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810364 SCV005733248 benign not provided 2024-04-04 criteria provided, single submitter clinical testing

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