ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.1780A>G (p.Met594Val)

gnomAD frequency: 0.02932  dbSNP: rs76572368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536927 SCV001753743 benign not provided 2021-07-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001536927 SCV002457959 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536927 SCV005316711 benign not provided criteria provided, single submitter not provided

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